ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.473G>A (p.Ser158Asn) (rs7624750)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000676692 SCV000677373 benign not provided 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081768 SCV000113703 benign not specified 2015-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000081768 SCV000170833 benign not specified 2011-06-30 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 RCV000339112 SCV000442615 benign Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676692 SCV000802489 benign not provided 2016-02-19 no assertion criteria provided clinical testing
PreventionGenetics RCV000081768 SCV000315385 benign not specified criteria provided, single submitter clinical testing

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