ClinVar Miner

Submissions for variant NM_018292.5(QRSL1):c.1425G>A (p.Leu475=)

gnomAD frequency: 0.43247  dbSNP: rs2015205
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001655526 SCV001868849 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796655 SCV002033382 benign Combined oxidative phosphorylation deficiency 40 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001655526 SCV002393130 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975810 SCV004798888 benign QRSL1-related disorder 2019-07-25 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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