ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.567_608del (p.186AP[3])

dbSNP: rs2133782940
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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 RCV001478570 SCV001682841 likely benign Beckwith-Wiedemann syndrome 2023-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005050382 SCV005676000 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2024-01-01 criteria provided, single submitter clinical testing

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