ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.1650A>C (p.Ile550=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005030718 SCV005654952 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-01-01 criteria provided, single submitter clinical testing

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