ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10441del (p.Val3481fs)

dbSNP: rs2091884240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) RCV001174548 SCV001337697 likely pathogenic Polycystic kidney disease, adult type 2020-01-21 criteria provided, single submitter clinical testing This variant has been identified in affected patients of two unrelated families.
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001249133 SCV001422345 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing

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