ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.487GCGGTC[3] (p.163AV[3])

dbSNP: rs889984547
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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 RCV000550309 SCV000623158 likely benign Beckwith-Wiedemann syndrome 2024-11-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000550309 SCV002534276 uncertain significance Beckwith-Wiedemann syndrome 2021-06-09 criteria provided, single submitter curation

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