ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.624G>T (p.Lys208Asn)

gnomAD frequency: 0.00003  dbSNP: rs201274864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590844 SCV001826970 uncertain significance not provided 2021-10-14 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002579497 SCV003277760 likely benign Biotin-responsive basal ganglia disease 2023-12-20 criteria provided, single submitter clinical testing

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