ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.788-5C>T

gnomAD frequency: 0.00034  dbSNP: rs775227462
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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 RCV000526112 SCV000623185 likely benign Beckwith-Wiedemann syndrome 2023-12-09 criteria provided, single submitter clinical testing

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