ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.1362del (p.Asn455fs)

dbSNP: rs772534528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784032 SCV002017936 likely pathogenic not provided 2020-07-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023256 SCV005654962 likely pathogenic Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-03-28 criteria provided, single submitter clinical testing

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