ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr)

gnomAD frequency: 0.00003  dbSNP: rs1422578175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565017 SCV001788277 uncertain significance not provided 2021-01-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000505591 SCV005638594 likely benign Polycystic kidney disease, adult type 2024-05-17 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505591 SCV000599882 uncertain significance Polycystic kidney disease, adult type 2017-04-20 no assertion criteria provided clinical testing

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