ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.807G>A (p.Lys269=)

dbSNP: rs1848882642
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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 RCV002196168 SCV002488571 likely benign Beckwith-Wiedemann syndrome 2021-11-23 criteria provided, single submitter clinical testing

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