ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2520+13A>G

gnomAD frequency: 0.00004  dbSNP: rs371943802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723430 SCV000228067 uncertain significance not provided 2014-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000176413 SCV000532216 likely benign not specified 2016-10-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000723430 SCV002362978 likely benign not provided 2023-07-09 criteria provided, single submitter clinical testing

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