ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13097C>T (p.Ala4366Val) (rs727505097)

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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 RCV000156541 SCV000206260 likely benign not specified 2014-05-01 criteria provided, single submitter clinical testing Ala4366Val in exon 63 of USH2A: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, at least 4 mammals (squirrel, cat, star-nosed mole, and tenrec) have a vali ne (Val) at this position despite high nearby amino acid conservation.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724829 SCV000231911 uncertain significance not provided 2015-05-29 criteria provided, single submitter clinical testing

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