ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12530_12531insGGG (p.Pro4177_Pro4178insGly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004760854 SCV005369984 uncertain significance not provided 2023-06-02 criteria provided, single submitter clinical testing In-frame insertion of 1 amino acid 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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