ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2493+15G>T

gnomAD frequency: 0.00178  dbSNP: rs77901141
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Total submissions: 5
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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 RCV000037350 SCV000061007 benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.2472+15G>T in Intron 19 of LAMA4: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence an d has been identified in 0.6% (23/3738) of African American chromosomes from a b road population by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS; dbSNP rs77901141).
GeneDx RCV001703879 SCV000513438 likely benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV002054656 SCV002418643 benign Dilated cardiomyopathy 1JJ 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002054656 SCV002799810 likely benign Dilated cardiomyopathy 1JJ 2022-02-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002054656 SCV004563381 benign Dilated cardiomyopathy 1JJ 2023-09-06 criteria provided, single submitter clinical testing

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