ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1866A>G (p.Val622=)

dbSNP: rs1287132024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001448762 SCV001651862 likely benign Gastrointestinal stromal tumor 2018-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413820 SCV002724135 likely benign Hereditary cancer-predisposing syndrome 2020-04-14 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 RCV003437346 SCV004150658 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing KIT: BP4, BP7

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