ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2059_2061del (p.Leu687del)

dbSNP: rs2544860380
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002464749 SCV002758885 uncertain significance not provided 2022-05-31 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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