ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.567A>C (p.Pro189=)

dbSNP: rs529326848
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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 RCV002163100 SCV002466501 likely benign Beckwith-Wiedemann syndrome 2023-04-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883789 SCV004701752 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CDKN1C: BP4, BP7

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