ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6683-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003471687 SCV004204753 likely pathogenic Polycystic kidney disease 4 2022-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003901091 SCV004712857 pathogenic PKHD1-related disorder 2023-12-21 no assertion criteria provided clinical testing The PKHD1 c.6683-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in PKHD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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