ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.652+77A>G

gnomAD frequency: 0.39418  dbSNP: rs274559
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000022336 SCV001156625 benign Renal carnitine transport defect 2019-01-23 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000022336 SCV001738690 benign Renal carnitine transport defect 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001650841 SCV001866549 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000022336 SCV002055872 benign Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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