ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=)

gnomAD frequency: 0.03671  dbSNP: rs529326848
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226510 SCV000283418 benign Beckwith-Wiedemann syndrome 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000242721 SCV000301915 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000242721 SCV000340172 benign not specified 2017-08-17 criteria provided, single submitter clinical testing
GeneDx RCV001689756 SCV001914648 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000226510 SCV002534286 benign Beckwith-Wiedemann syndrome 2020-02-24 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002503884 SCV002807063 benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2022-01-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689756 SCV005321370 benign not provided criteria provided, single submitter not provided

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