ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10741-1G>T

dbSNP: rs1064795279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479860 SCV000570943 pathogenic not provided 2019-01-10 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV004568190 SCV005055710 likely pathogenic Retinitis pigmentosa 39 2024-03-04 criteria provided, single submitter clinical testing

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