ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) (rs1555454411)

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Total submissions: 4
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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 RCV000500237 SCV000592791 pathogenic Autosomal recessive polycystic kidney disease 2016-07-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508539 SCV000604714 pathogenic not specified 2017-02-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000681684 SCV000843155 pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000681684 SCV000809131 pathogenic not provided 2018-09-16 no assertion criteria provided research

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