ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.570G>A (p.Pro190=)

gnomAD frequency: 0.00048  dbSNP: rs145853251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529719 SCV000652068 likely benign Cutis laxa, autosomal recessive, type 1B 2023-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350355 SCV002650599 likely benign Cardiovascular phenotype 2021-03-25 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003485603 SCV004240552 benign Familial thoracic aortic aneurysm and aortic dissection 2023-03-21 criteria provided, single submitter clinical testing

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