ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.587_616del (p.186_187AP[5])

dbSNP: rs878853638
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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 RCV000225864 SCV000283421 likely benign Beckwith-Wiedemann syndrome 2024-01-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000225864 SCV002534289 likely benign Beckwith-Wiedemann syndrome 2020-09-21 criteria provided, single submitter curation

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