ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=)

gnomAD frequency: 0.00044  dbSNP: rs878853626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225887 SCV000283404 likely benign Beckwith-Wiedemann syndrome 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000225887 SCV002534271 uncertain significance Beckwith-Wiedemann syndrome 2021-07-14 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003326378 SCV004033116 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CDKN1C: BP4, BP7

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