ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14226G>A (p.Thr4742=) (rs78576418)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041755 SCV000065451 benign not specified 2013-02-06 criteria provided, single submitter clinical testing Thr4742Thr in exon 65 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and has been identifi ed in 1.8% (80/4406) of African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/).
Athena Diagnostics Inc RCV000714159 SCV000844842 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV000714159 SCV001038581 benign not provided 2019-02-15 criteria provided, single submitter clinical testing

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