ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2094C>T (p.Thr698=) (rs141489104)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591302 SCV000701873 likely benign not specified 2016-11-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000591302 SCV000711242 benign not specified 2016-12-22 criteria provided, single submitter clinical testing p.Thr698Thr in Exon 12 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.5% (48/10398) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad; dbSNP rs141489104).
Invitae RCV000915960 SCV001061187 benign not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000915960 SCV001786359 likely benign not provided 2020-12-30 criteria provided, single submitter clinical testing

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