ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=)

gnomAD frequency: 0.00001  dbSNP: rs534471786
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461118 SCV000554643 benign Beckwith-Wiedemann syndrome 2024-09-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489090 SCV002798665 likely benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2022-04-24 criteria provided, single submitter clinical testing

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