ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter)

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Total submissions: 1
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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) RCV001174547 SCV001337696 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.

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