ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) (rs111033498)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041774 SCV000065470 benign not specified 2011-04-05 criteria provided, single submitter clinical testing Ala4987Val in exon 68 of USH2A: This variant is not expected to have clinical si gnificance because this residue is not highly conserved across species. Of note, chicken and frog have an aspartic acid at this position. In addition, the varia nt has been identified by our laboratory in 5/223 (2.3%) probands including 3/31 (9.7%) Hispanic probands.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041774 SCV000114879 benign not specified 2015-01-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041774 SCV000605547 benign not specified 2019-04-03 criteria provided, single submitter clinical testing
Invitae RCV000755428 SCV001096946 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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