ClinVar Miner

Submissions for variant NM_005548.3(KARS1):c.787T>G (p.Phe263Val)

gnomAD frequency: 0.00001  dbSNP: rs772410450
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200599 SCV001371605 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University RCV001374667 SCV001571593 uncertain significance Autosomal recessive nonsyndromic hearing loss 89 2021-03-30 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000681463 SCV000808061 pathogenic Optic neuropathy; Progressive cerebellar ataxia; Abnormal cerebral white matter morphology; Abnormal pyramidal sign; Congenital sensorineural hearing impairment 2018-09-10 no assertion criteria provided research
OMIM RCV001293664 SCV001482431 pathogenic Deafness, congenital, and adult-onset progressive leukoencephalopathy 2021-03-01 no assertion criteria provided literature only

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