ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5238+12G>T

gnomAD frequency: 0.00001  dbSNP: rs200918890
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Total submissions: 2
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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 RCV000680565 SCV000807979 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV003525942 SCV004277968 likely benign Aortic aneurysm, familial thoracic 7 2023-10-27 criteria provided, single submitter clinical testing

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