ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.490_491insC (p.Val164fs)

dbSNP: rs2133784176
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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 RCV001442758 SCV001645713 likely benign Beckwith-Wiedemann syndrome 2023-05-18 criteria provided, single submitter clinical testing

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