ClinVar Miner

Submissions for variant NM_138295.5(PKD1L1):c.1324G>A (p.Val442Met)

gnomAD frequency: 0.00150  dbSNP: rs139392810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891484 SCV001035303 likely benign not provided 2024-08-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000891484 SCV005227343 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003957955 SCV004772624 likely benign PKD1L1-related disorder 2022-01-28 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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