ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.539_540insTCCGTC (p.Pro181_Ala182insSerPro)

dbSNP: rs1590149802
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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 RCV000876002 SCV001018504 likely benign Beckwith-Wiedemann syndrome 2019-01-02 criteria provided, single submitter clinical testing

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