ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.335T>C (p.Phe112Ser)

gnomAD frequency: 0.00006  dbSNP: rs200971390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000938104 SCV001083905 likely benign Biotin-responsive basal ganglia disease 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001564416 SCV001787578 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001564416 SCV002064015 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing

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