ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.534T>C (p.Ala178=)

gnomAD frequency: 0.00004  dbSNP: rs112196492
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250742 SCV000301914 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000457659 SCV000554634 likely benign Beckwith-Wiedemann syndrome 2023-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001589204 SCV001823526 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016)
CeGaT Center for Human Genetics Tuebingen RCV001589204 SCV005042386 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing CDKN1C: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001589204 SCV005223198 likely benign not provided criteria provided, single submitter not provided

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