ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=)

gnomAD frequency: 0.00003  dbSNP: rs762337324
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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 RCV001446511 SCV001649558 likely benign Beckwith-Wiedemann syndrome 2022-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507507 SCV002810063 likely benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2022-04-04 criteria provided, single submitter clinical testing

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