ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.106A>G (p.Ile36Val)

gnomAD frequency: 0.00019  dbSNP: rs372637185
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730839 SCV000858604 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001046655 SCV001210567 likely benign Biotin-responsive basal ganglia disease 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000730839 SCV001783033 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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