ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8846-7T>C

gnomAD frequency: 0.00006  dbSNP: rs769662049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000948580 SCV001094795 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000948580 SCV001805303 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Located in a region that tolerates variation and lacks pathogenic variants; Has not been previously published as pathogenic or benign to our knowledge

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