ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser)

dbSNP: rs1135402749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001805114 SCV002053892 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 4 criteria provided, single submitter clinical testing
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School RCV000496998 SCV000588197 pathogenic Mitochondrial complex I deficiency no assertion criteria provided research

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