ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3397C>T (p.Leu1133=)

dbSNP: rs1060504649
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456839 SCV000560688 likely benign Aortic aneurysm, familial thoracic 7 2020-10-09 criteria provided, single submitter clinical testing

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