Submissions for variant NM_000222.3(KIT):c.2502G>A (p.Lys834=)

gnomAD frequency: 0.00014  dbSNP: rs146992614

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230841	SCV000283929	likely benign	Gastrointestinal stromal tumor	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450662	SCV002738807	likely benign	Hereditary cancer-predisposing syndrome	2022-02-16	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.
Fulgent Genetics, Fulgent Genetics	RCV002494620	SCV002799440	likely benign	Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis	2022-05-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947744	SCV004759731	likely benign	KIT-related disorder	2020-03-23	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).