ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.553_570dup (p.Ala185_Ala190dup)

dbSNP: rs2133783326
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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 RCV002103420 SCV002381599 likely benign Beckwith-Wiedemann syndrome 2022-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005050538 SCV005676007 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2024-04-22 criteria provided, single submitter clinical testing

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