Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_001040108.2(MLH3):c.2116del (p.Thr706fs) | MLH3 | Likely pathogenic | 14 | 75514243 | 75514243 | GT | G | criteria provided, single submitter | ClinGen:CA204588 |