ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10341C>T (p.Ala3447=) (rs372015149)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179116 SCV000231313 uncertain significance not provided 2014-11-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825849 SCV000967333 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala3447Ala in Exon 52 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/3738 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS).
Invitae RCV000179116 SCV001071062 likely benign not provided 2018-12-18 criteria provided, single submitter clinical testing

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