ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.670del (p.Leu224fs)

dbSNP: rs1553924173
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000500327 SCV000592877 pathogenic Autosomal recessive polycystic kidney disease 2016-08-25 criteria provided, single submitter clinical testing

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