ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7595-2144A>G (rs786200928)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664608 SCV000788602 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000814767 SCV000955192 pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing This sequence change falls in intron 40 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed to segregate with Usher syndrome in several families (PMID: 22009552, 23924366). ClinVar contains an entry for this variant (Variation ID: 30722). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 22009552). For these reasons, this variant has been classified as Pathogenic.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000505092 SCV000926743 pathogenic Usher syndrome 2018-04-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787740 SCV000926744 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505092 SCV000598828 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research
OMIM RCV000023700 SCV000044991 pathogenic Usher syndrome, type 2A 2012-01-01 no assertion criteria provided literature only

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