ClinVar Miner

Submissions for variant NM_003480.4(MFAP5):c.195T>A (p.Ile65=)

gnomAD frequency: 0.00016  dbSNP: rs146558268
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704716 SCV000714419 likely benign not provided 2023-06-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001704716 SCV002359791 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420587 SCV002721427 likely benign Cardiovascular phenotype 2019-06-12 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 RCV003403416 SCV004122614 benign not specified 2023-10-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003750809 SCV004564245 likely benign Aortic aneurysm, familial thoracic 9 2023-02-15 criteria provided, single submitter clinical testing

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