ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.1077+8dup

gnomAD frequency: 0.00007  dbSNP: rs397516713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037325 SCV000060982 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing c.1056+8_1056+9insT in intron 9 of LAMA4: This variant is not expected to have c linical significance because it is not located within the splice consensus seque nce.
Invitae RCV001350617 SCV001545023 likely benign Dilated cardiomyopathy 1JJ 2023-08-04 criteria provided, single submitter clinical testing

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