ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) (rs373604102)

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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 RCV000041889 SCV000065585 likely benign not specified 2011-09-25 criteria provided, single submitter clinical testing Ser2170Arg in exon 34 of USH2A: This variant is not expected to have clinical si gnificance because the Serine 2170 residue is poorly conserved in mammals with m ost other species having an Asparagine. Therefore, this variant is likely benign .
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041889 SCV000343285 benign not specified 2016-07-14 criteria provided, single submitter clinical testing
Invitae RCV000923504 SCV001068984 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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