ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.905T>C (p.Leu302Pro)

dbSNP: rs1695547539
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001174545 SCV001334154 likely pathogenic Biotin-responsive basal ganglia disease no assertion criteria provided clinical testing

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