ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)

gnomAD frequency: 0.00072  dbSNP: rs147325795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377253 SCV000343006 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing
Invitae RCV001086217 SCV001091314 likely benign Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920148 SCV004733928 likely benign WDR35-related condition 2022-09-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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