ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)

gnomAD frequency: 0.00098  dbSNP: rs61740381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531562 SCV000652074 benign Cutis laxa, autosomal recessive, type 1B 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001556936 SCV001778609 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001556936 SCV004226188 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing BS1, PP3
Ambry Genetics RCV004024217 SCV005027196 benign Cardiovascular phenotype 2020-12-28 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.

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