ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12067-1G>C (rs397517977)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041711 SCV000065407 pathogenic Rare genetic deafness 2010-10-05 criteria provided, single submitter clinical testing The 12067-1G>C variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. The 12067-1G>C variant is predicted to caus e abnormal splicing because the nucleotide substitution occurs in the invariant region of the splice consensus sequence. In summary, this variant meets our crit eria to be classified as pathogenic.
Counsyl RCV000670110 SCV000794926 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-19 criteria provided, single submitter clinical testing

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