ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.1113A>G (p.Lys371=)

gnomAD frequency: 0.00003  dbSNP: rs778831561
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028609 SCV002277738 likely benign Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-12-10 criteria provided, single submitter clinical testing

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