ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.43G>C (p.Val15Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004761249 SCV005371396 uncertain significance not provided 2023-06-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005017260 SCV005648021 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2023-12-27 criteria provided, single submitter clinical testing

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