ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1052+101A>G

gnomAD frequency: 0.06948  dbSNP: rs2073645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527589 SCV001738693 likely benign Renal carnitine transport defect 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001712957 SCV001944261 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527589 SCV002055875 benign Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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