ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.1662A>T (p.Gly554=)

gnomAD frequency: 0.00001  dbSNP: rs767878828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001933721 SCV002203905 likely benign Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2022-10-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001933721 SCV005654950 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-04-30 criteria provided, single submitter clinical testing

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