ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8124G>A (p.Thr2708=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005407336 SCV006073915 likely benign not specified 2025-04-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739775 SCV005346310 likely benign PKD1-related disorder 2024-09-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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