ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.585G>C (p.Pro195=)

dbSNP: rs1060503858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002099995 SCV002381535 likely benign Beckwith-Wiedemann syndrome 2023-05-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883764 SCV004701351 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing CDKN1C: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003883764 SCV005223197 likely benign not provided criteria provided, single submitter not provided

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