ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=)

dbSNP: rs1060503861
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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 RCV001203100 SCV001374246 likely benign Beckwith-Wiedemann syndrome 2023-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484092 SCV002782970 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-11-05 criteria provided, single submitter clinical testing

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