ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.393+5G>A

dbSNP: rs1554086029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664626 SCV000788622 uncertain significance Renal carnitine transport defect 2017-04-28 criteria provided, single submitter clinical testing
GeneDx RCV004588088 SCV005079416 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 28841266, 25132046)

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