ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6529G>A (p.Asp2177Asn)

gnomAD frequency: 0.00002  dbSNP: rs747794812
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773328 SCV002001786 uncertain significance not provided 2020-02-06 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

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