ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)

gnomAD frequency: 0.00092  dbSNP: rs144780990
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539989 SCV000652069 benign Cutis laxa, autosomal recessive, type 1B 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001697378 SCV000717477 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002384231 SCV002673577 benign Cardiovascular phenotype 2020-06-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330792 SCV004039363 likely benign not specified 2023-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952836 SCV004769614 likely benign EFEMP2-related disorder 2019-04-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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