ClinVar Miner

Submissions for variant NM_003480.4(MFAP5):c.410-18G>A

gnomAD frequency: 0.00155  dbSNP: rs151240610
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431653 SCV000535454 likely benign not specified 2017-07-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063627 SCV002477909 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502590 SCV002804484 likely benign Aortic aneurysm, familial thoracic 9 2022-01-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000431653 SCV004038959 benign not specified 2023-08-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002502590 SCV004562068 benign Aortic aneurysm, familial thoracic 9 2023-04-04 criteria provided, single submitter clinical testing

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