ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4421A>G (p.Asn1474Ser)

gnomAD frequency: 0.00001  dbSNP: rs750149483
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773067 SCV002003780 uncertain significance not provided 2020-10-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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