ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1839A>G (p.Glu613=)

gnomAD frequency: 0.00129  dbSNP: rs146588152
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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 RCV000517251 SCV000614398 benign not specified 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000876223 SCV000723323 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316470 SCV000849533 likely benign Inborn genetic diseases 2017-05-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000517251 SCV000858986 benign not specified 2018-01-22 criteria provided, single submitter clinical testing
Invitae RCV000876223 SCV001018767 benign not provided 2023-12-08 criteria provided, single submitter clinical testing

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