ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1315-4C>A

gnomAD frequency: 0.00001  dbSNP: rs758218592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431936 SCV001634698 likely benign Biotin-responsive basal ganglia disease 2020-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970621 SCV004778067 likely benign SLC19A3-related disorder 2019-09-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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