ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.373C>T (p.Leu125=)

dbSNP: rs2133784894
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002092116 SCV002325138 likely benign Beckwith-Wiedemann syndrome 2023-11-10 criteria provided, single submitter clinical testing

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