ClinVar Miner

Submissions for variant NM_138295.5(PKD1L1):c.4859+10T>C

gnomAD frequency: 0.04055  dbSNP: rs17659956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001614679 SCV001840716 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001614679 SCV003207221 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980790 SCV004800701 benign PKD1L1-related disorder 2021-11-27 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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