ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.327C>G (p.Ala109=)

dbSNP: rs1060504187
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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 RCV000476680 SCV000557475 likely benign Familial melanoma 2022-05-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177304 SCV001341491 likely benign Hereditary cancer-predisposing syndrome 2019-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001177304 SCV002606506 likely benign Hereditary cancer-predisposing syndrome 2022-09-13 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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