ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)

gnomAD frequency: 0.00009  dbSNP: rs780569649
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273994 SCV000339128 uncertain significance not provided 2016-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000813702 SCV000954071 likely benign Biotin-responsive basal ganglia disease 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000273994 SCV001822487 likely benign not provided 2020-06-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000813702 SCV003835160 uncertain significance Biotin-responsive basal ganglia disease 2021-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000273994 SCV004033866 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing SLC19A3: PM2, BP4
Mayo Clinic Laboratories, Mayo Clinic RCV000273994 SCV005409079 uncertain significance not provided 2024-04-08 criteria provided, single submitter clinical testing BP4

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