ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[1] (p.152APVA[1])

dbSNP: rs565544512
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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 RCV000548979 SCV000623155 likely benign Beckwith-Wiedemann syndrome 2023-12-02 criteria provided, single submitter clinical testing

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