ClinVar Miner

Submissions for variant NM_005262.3(GFER):c.586C>T (p.Arg196Cys) (rs370475970)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709773 SCV000840091 not provided Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Wellcome Centre for Mitochondrial Research,Newcastle University RCV000508691 SCV000575906 pathogenic Mitochondrial diseases 2017-04-07 no assertion criteria provided clinical testing

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