ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.368-5C>T

gnomAD frequency: 0.00002  dbSNP: rs201248112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498868 SCV001703622 likely benign Cutis laxa, autosomal recessive, type 1B 2024-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456899 SCV002613709 likely benign Cardiovascular phenotype 2019-04-19 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331171 SCV004039090 uncertain significance not specified 2023-08-11 criteria provided, single submitter clinical testing

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