ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3358+14A>G

gnomAD frequency: 0.00007  dbSNP: rs372822923
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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 RCV002187253 SCV002347390 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498173 SCV002810765 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-11-18 criteria provided, single submitter clinical testing

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