ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8305_8310dup (p.Asn2770_Glu2771insLeuAsn)

dbSNP: rs2544745787
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003327942 SCV004034693 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing In-frame insertion of 2 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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