ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=)

dbSNP: rs747104008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000988475 SCV000623181 likely benign Beckwith-Wiedemann syndrome 2024-01-17 criteria provided, single submitter clinical testing
Mendelics RCV000988475 SCV001138208 likely benign Beckwith-Wiedemann syndrome 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000988475 SCV002534297 likely benign Beckwith-Wiedemann syndrome 2022-01-18 criteria provided, single submitter curation

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