ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.303G>C (p.Ala101=)

gnomAD frequency: 0.00022  dbSNP: rs931922290
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628588 SCV000749490 likely benign Beckwith-Wiedemann syndrome 2024-01-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000628588 SCV002534266 likely benign Beckwith-Wiedemann syndrome 2021-04-23 criteria provided, single submitter curation

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