ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) (rs1057518976)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415037 SCV000493048 likely pathogenic Polycystic kidney dysplasia; Abnormality of the kidney; Multicystic kidney dysplasia 2013-11-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501988 SCV000592766 uncertain significance not specified 2016-05-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000501988 SCV000614499 uncertain significance not specified 2016-11-16 criteria provided, single submitter clinical testing

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