ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1512T>C (p.Phe504=)

dbSNP: rs2109769661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002194256 SCV002487867 likely benign Gastrointestinal stromal tumor 2021-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004641939 SCV005132092 likely benign Hereditary cancer-predisposing syndrome 2024-06-22 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.

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