ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.987G>A (p.Val329=)

gnomAD frequency: 0.00061  dbSNP: rs146636922
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000926665 SCV001072228 likely benign Biotin-responsive basal ganglia disease 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001566416 SCV001789929 likely benign not provided 2020-02-13 criteria provided, single submitter clinical testing

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