ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7602G>A (p.Leu2534=)

gnomAD frequency: 0.00001  dbSNP: rs1392530685
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001181380 SCV000738807 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-16 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.
Color Diagnostics, LLC DBA Color Health RCV001181380 SCV001346517 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001468415 SCV001672465 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000632050 SCV001770484 likely benign not provided 2019-07-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002718 SCV004816751 likely benign Marfan syndrome 2023-06-28 criteria provided, single submitter clinical testing

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