ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.168C>T (p.Ser56=)

dbSNP: rs771138120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582370 SCV000689589 likely benign Hereditary cancer-predisposing syndrome 2017-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000793242 SCV000932587 likely benign Familial melanoma 2024-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582370 SCV001173229 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-02 criteria provided, single submitter clinical testing report under p14 isoform
GeneDx RCV004760635 SCV005370881 uncertain significance not provided 2023-07-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene; This variant is associated with the following publications: (PMID: 32686686)

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