ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1608A>C (p.Ala536=) (rs78767626)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081751 SCV000113686 benign not specified 2016-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000081751 SCV000170839 benign not specified 2011-11-29 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.
PreventionGenetics,PreventionGenetics RCV000081751 SCV000315378 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319475 SCV000442629 likely benign Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000081751 SCV000614378 benign not specified 2017-08-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676698 SCV000802496 benign not provided 2016-02-23 no assertion criteria provided clinical testing

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