ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala)

gnomAD frequency: 0.00016  dbSNP: rs1261515352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539515 SCV000623166 likely benign Beckwith-Wiedemann syndrome 2023-12-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000735112 SCV000863312 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506285 SCV002815578 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2022-01-04 criteria provided, single submitter clinical testing

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