ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.2796C>T (p.Arg932=) (rs35540805)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000676702 SCV000842964 benign not provided 2018-06-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081764 SCV000113699 benign not specified 2013-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000081764 SCV000170846 benign not specified 2014-05-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000390234 SCV000442636 likely benign Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676702 SCV000802501 likely benign not provided 2016-03-16 no assertion criteria provided clinical testing

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