ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.522+13C>T

gnomAD frequency: 0.00005  dbSNP: rs374417243
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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 RCV002126063 SCV002452836 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500250 SCV002798415 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-08-12 criteria provided, single submitter clinical testing

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