ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.882C>T (p.Cys294=)

gnomAD frequency: 0.00009  dbSNP: rs371712739
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508306 SCV000603423 likely benign not specified 2016-09-06 criteria provided, single submitter clinical testing
Invitae RCV001499211 SCV001703970 likely benign Cutis laxa, autosomal recessive, type 1B 2023-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002376940 SCV002683406 likely benign Cardiovascular phenotype 2019-06-06 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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