ClinVar Miner

Submissions for variant NM_138295.5(PKD1L1):c.2680G>A (p.Val894Ile)

gnomAD frequency: 0.09722  dbSNP: rs56100904
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001638814 SCV001852202 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001638814 SCV003245459 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638814 SCV005271618 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980825 SCV004787939 benign PKD1L1-related disorder 2019-12-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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