ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7957_7958del (p.Leu2653fs)

dbSNP: rs2151766800
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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) RCV002273855 SCV002558725 likely pathogenic Polycystic kidney disease, adult type 2022-08-03 criteria provided, single submitter clinical testing

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