ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.51C>T (p.Ser17=)

gnomAD frequency: 0.00002  dbSNP: rs1216953646
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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 RCV001491385 SCV001695976 likely benign Beckwith-Wiedemann syndrome 2023-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501684 SCV002809563 likely benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2022-02-08 criteria provided, single submitter clinical testing

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