ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.611G>A (p.Ser204Asn)

gnomAD frequency: 0.00001  dbSNP: rs773705000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815888 SCV000956366 likely benign Biotin-responsive basal ganglia disease 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV002284442 SCV002574633 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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