ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8016+2T>C

dbSNP: rs1596536505
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788784 SCV000928026 likely pathogenic not provided 2018-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001536064 SCV001752761 likely pathogenic Polycystic kidney disease, adult type 2021-06-30 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003411734 SCV004106912 likely pathogenic PKD1-related condition 2023-08-09 criteria provided, single submitter clinical testing The PKD1 c.8016+2T>C variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in PKD1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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