ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.893A>G (p.Tyr298Cys)

gnomAD frequency: 0.00001  dbSNP: rs370104837
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233655 SCV001406259 uncertain significance Biotin-responsive basal ganglia disease 2021-08-27 criteria provided, single submitter clinical testing

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