ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=)

gnomAD frequency: 0.00001  dbSNP: rs1262607893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818053 SCV000958647 likely benign Beckwith-Wiedemann syndrome 2023-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487811 SCV002791002 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2022-02-17 criteria provided, single submitter clinical testing

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