ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9])

dbSNP: rs759134767
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360364 SCV000334962 benign not specified 2018-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000229773 SCV000749494 benign Beckwith-Wiedemann syndrome 2025-02-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000229773 SCV002534290 benign Beckwith-Wiedemann syndrome 2020-10-20 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002503885 SCV002800208 benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311717 SCV004010048 benign not provided 2024-10-01 criteria provided, single submitter clinical testing CDKN1C: BS1, BS2
Genetic Services Laboratory, University of Chicago RCV000360364 SCV003839332 likely benign not specified 2022-06-29 no assertion criteria provided clinical testing

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