ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.510_527del (p.168_169AP[5])

dbSNP: rs1064792991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460811 SCV000554640 likely benign Beckwith-Wiedemann syndrome 2024-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546501 SCV005042236 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing CDKN1C: BP3

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