ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs932577597
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Total submissions: 2
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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 Seizure; Hemivertebrae; Polycystic kidney disease; Atrial septal defect, ostium secundum type; Missing ribs; Dry skin; Abnormality of the nail; Abnormal cortical gyration; Hyperechogenic kidneys; Periventricular heterotopia; Plantar crease between first and second toes; Overlapping fingers 2017-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507050 SCV002815624 uncertain significance Polycystic kidney disease, adult type 2022-02-01 criteria provided, single submitter clinical testing

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