ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2719_2727del (p.His907_Val909del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004776156 SCV005383516 uncertain significance not provided 2024-02-22 criteria provided, single submitter clinical testing In-frame deletion of 3 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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