ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.99_100insT (p.Arg34fs) (rs141672841)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623620 SCV000740832 pathogenic Inborn genetic diseases 2015-03-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198126 SCV001368957 pathogenic Nyctalopia; Constriction of peripheral visual field; Reduced visual acuity 2019-03-31 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2. This variant was detected in heterozygous state.

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