ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.744C>T (p.Ala248=)

dbSNP: rs1590148914
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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 RCV000938975 SCV001084808 likely benign Beckwith-Wiedemann syndrome 2023-09-14 criteria provided, single submitter clinical testing

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