ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.546_563del (p.Val184_Pro189del)

dbSNP: rs1203797892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628582 SCV000749484 likely benign Beckwith-Wiedemann syndrome 2023-09-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821766 SCV002065843 likely benign not specified 2021-06-23 criteria provided, single submitter clinical testing

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