ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=)

dbSNP: rs373252940
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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 RCV000555848 SCV000623187 likely benign Beckwith-Wiedemann syndrome 2023-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490929 SCV002795634 likely benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-12-31 criteria provided, single submitter clinical testing

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