ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.699G>C (p.Ser233=)

gnomAD frequency: 0.00004  dbSNP: rs751650132
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628584 SCV000749486 likely benign Beckwith-Wiedemann syndrome 2023-10-18 criteria provided, single submitter clinical testing

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