Submissions for variant NM_000222.3(KIT):c.735G>A (p.Thr245=)

gnomAD frequency: 0.00003  dbSNP: rs150150449

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227627	SCV000283948	benign	Gastrointestinal stromal tumor	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001026319	SCV001188678	likely benign	Hereditary cancer-predisposing syndrome	2019-09-23	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.
GeneDx	RCV003159114	SCV003852904	likely benign	not provided	2023-03-28	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000227627	SCV004015805	benign	Gastrointestinal stromal tumor	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955300	SCV004769100	likely benign	KIT-related disorder	2022-12-09	criteria provided, single submitter	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).