ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4983C>T (p.Asn1661=)

gnomAD frequency: 0.00001  dbSNP: rs754178241
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769055 SCV002002439 uncertain significance not provided 2020-07-22 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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