ClinVar Miner

Submissions for variant NM_001009944.2(PKD1):c.8017-?_8161+?dup

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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 RCV000502782 SCV000591009 likely pathogenic Autosomal recessive polycystic kidney disease 2016-03-23 criteria provided, single submitter clinical testing

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