ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.601_602insAGGCCC (p.Ala200_Pro201insGlnAla)

dbSNP: rs2133782983
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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 RCV001393208 SCV001594864 likely benign Beckwith-Wiedemann syndrome 2021-08-11 criteria provided, single submitter clinical testing

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