ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=)

gnomAD frequency: 0.00208  dbSNP: rs149717696
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226565 SCV000283401 benign Beckwith-Wiedemann syndrome 2025-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000246345 SCV000301910 benign not specified criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000226565 SCV002534264 benign Beckwith-Wiedemann syndrome 2021-01-31 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002503883 SCV002808353 likely benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-07-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004808640 SCV005436203 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing CDKN1C: BP4, BP7, BS1
Genetic Services Laboratory, University of Chicago RCV000246345 SCV003839331 likely benign not specified 2022-06-20 no assertion criteria provided clinical testing

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