ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4560C>T (p.Ile1520=) (rs148000219)

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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 RCV000041844 SCV000065540 benign not specified 2014-01-30 criteria provided, single submitter clinical testing Ile1520Ile in Exon 21A 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 0.3% (27/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs148000219).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724966 SCV000332785 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing
Invitae RCV000724966 SCV001096351 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000724966 SCV001146613 benign not provided 2019-03-21 criteria provided, single submitter clinical testing

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