ClinVar Miner

Submissions for variant NM_018669.6(WDR4):c.911_927dup (p.Gln310fs)

dbSNP: rs1569314907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281599 SCV001468924 pathogenic not provided criteria provided, single submitter clinical testing
OMIM RCV000758711 SCV000887485 pathogenic Galloway-Mowat syndrome 6 2019-03-08 no assertion criteria provided literature only

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