ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.510_533dup (p.168_169AP[12])

dbSNP: rs1486933065
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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 RCV001474652 SCV001678826 likely benign Beckwith-Wiedemann syndrome 2023-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047150 SCV005676010 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2024-02-19 criteria provided, single submitter clinical testing

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