ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.967-13C>T

gnomAD frequency: 0.00006  dbSNP: rs782148493
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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 RCV000825180 SCV000966454 likely benign not specified 2018-03-14 criteria provided, single submitter clinical testing c.946-13C>T in intron 8 of LAMA4: This variant is classified as likely benign be cause a C>T change at this position does not diverge from the splice consensus s equence and is therefore unlikely to impact splicing. It has been identified in 0.02% (5/24030) of African chromosomes by the Genome Aggregation Database (gnomA D, http://gnomad.broadinstitute.org; dbSNP rs782148493). ACMG/AMP Criteria appli ed: BP4; BP7.
Invitae RCV003581733 SCV004271524 likely benign Dilated cardiomyopathy 1JJ 2023-09-04 criteria provided, single submitter clinical testing

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