Submissions for variant NM_000222.3(KIT):c.2208C>T (p.Ala736=)

gnomAD frequency: 0.00006  dbSNP: rs375902940

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000225949	SCV000283919	likely benign	Gastrointestinal stromal tumor	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001014730	SCV001175477	likely benign	Hereditary cancer-predisposing syndrome	2018-11-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV004808641	SCV005434711	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	KIT: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003897519	SCV004715569	likely benign	KIT-related disorder	2021-12-30	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).