ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.225T>C (p.Asp75=)

gnomAD frequency: 0.00001  dbSNP: rs886044447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000275775 SCV000344976 uncertain significance not provided 2016-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059288 SCV002413974 likely benign Biotin-responsive basal ganglia disease 2021-10-04 criteria provided, single submitter clinical testing

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