ClinVar Miner

Submissions for variant NC_012920.1:m.11778G>A (rs199476112)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000224219 SCV000604440 pathogenic not provided 2017-05-12 criteria provided, single submitter clinical testing m.11778G>A is one of a small number of primary variants which are causative of Leber hereditary optic neuropathy (LHON; MIM: 535000). It is estimated that 70% of LHON families of northern European descent carry the m.11778G>A variant (Mackey 1996).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224219 SCV000281600 pathogenic not provided 2014-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics RCV000010354 SCV000894486 pathogenic Leber's optic atrophy 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000010354 SCV000086616 pathologic Leber's optic atrophy 2013-09-19 no assertion criteria provided curation Converted during submission to Pathogenic.
GenomeConnect, ClinGen RCV000010354 SCV000784691 not provided Leber's optic atrophy 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.
OMIM RCV000010354 SCV000030580 pathogenic Leber's optic atrophy 2008-12-01 no assertion criteria provided literature only

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