ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)

gnomAD frequency: 0.00001  dbSNP: rs397515813
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035209 SCV000058853 likely benign not specified 2009-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872049 SCV001013802 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000035209 SCV001572464 likely benign not specified 2021-04-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504871 SCV002813768 likely benign Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162297 SCV003911066 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-02-08 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.

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