ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6740-10T>A

dbSNP: rs1456822662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002146560 SCV002468655 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-08-02 criteria provided, single submitter clinical testing

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