ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.465C>T (p.Pro155=)

dbSNP: rs1471079871
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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 RCV000549994 SCV000637425 likely benign Familial melanoma 2024-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022863 SCV001184646 likely benign Hereditary cancer-predisposing syndrome 2019-10-30 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.
Color Diagnostics, LLC DBA Color Health RCV001022863 SCV001351697 likely benign Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing

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