ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.*5+20G>T

dbSNP: rs760540648
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257066 SCV002534263 uncertain significance Beckwith-Wiedemann syndrome 2022-01-20 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002481065 SCV002793951 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2024-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002257066 SCV005813458 likely benign Beckwith-Wiedemann syndrome 2025-01-02 criteria provided, single submitter clinical testing

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