ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.643C>G (p.Gln215Glu)

gnomAD frequency: 0.00004  dbSNP: rs483352987
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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 RCV000474244 SCV000541743 likely benign Beckwith-Wiedemann syndrome 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243132 SCV003944230 likely benign Inborn genetic diseases 2023-05-26 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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