ClinVar Miner

Submissions for variant NM_003480.4(MFAP5):c.94+18T>G

gnomAD frequency: 0.00006  dbSNP: rs766176657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002145882 SCV002460563 likely benign not provided 2023-11-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003750879 SCV004562524 likely benign Aortic aneurysm, familial thoracic 9 2023-09-11 criteria provided, single submitter clinical testing

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