ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)

gnomAD frequency: 0.00001  dbSNP: rs374096293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044741 SCV001208555 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001044741 SCV001999974 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001272932 SCV001455383 uncertain significance Usher syndrome type 2A 2020-01-24 no assertion criteria provided clinical testing

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