ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6369C>T (p.Cys2123=) (rs111033472)

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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 RCV000041886 SCV000065582 benign not specified 2011-11-03 criteria provided, single submitter clinical testing Cys2123Cys in exon 33 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and has been identified in 1.7% (77/4550) of control chromosom es (dbSNP rs111033472).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041886 SCV000605551 benign not specified 2018-12-18 criteria provided, single submitter clinical testing
Invitae RCV000755430 SCV001036374 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000755430 SCV001146616 benign not provided 2018-11-12 criteria provided, single submitter clinical testing

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