ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3858+13C>T

gnomAD frequency: 0.00006  dbSNP: rs375738696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659914 SCV000781818 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824859 SCV002074143 likely benign not specified 2024-03-30 criteria provided, single submitter clinical testing
Invitae RCV002530561 SCV003459684 likely benign Aortic aneurysm, familial thoracic 4 2023-12-28 criteria provided, single submitter clinical testing

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