ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=)

gnomAD frequency: 0.00001  dbSNP: rs1426804435
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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 RCV000628579 SCV000749481 likely benign Beckwith-Wiedemann syndrome 2023-04-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499022 SCV002801176 likely benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2022-04-12 criteria provided, single submitter clinical testing

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