ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) (rs932577597)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626721 SCV000747424 uncertain significance Seizures; Hemivertebrae; Polycystic kidney dysplasia; Secundum atrial septal defect; Missing ribs; Dry skin; Abnormality of the nail; Abnormal cortical gyration; Hyperechogenic kidneys; Periventricular gray matter heterotopia; Plantar crease between first and second toes; Overlapping fingers 2017-01-01 criteria provided, single submitter clinical testing

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