ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.295G>T (p.Glu99Ter) (rs1578111378)

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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) RCV001027652 SCV001164598 likely pathogenic Polycystic kidney disease 2 2020-02-27 criteria provided, single submitter clinical testing We have identified 6 affected cases of polycystic kidney disease in three unrelated families in the south coast of Spain.

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