ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.196-9C>T

gnomAD frequency: 0.00174  dbSNP: rs144850734
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Total submissions: 7
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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 RCV000037344 SCV000061001 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing c.196-9C>T in intron 2 of LAMA4: This variant is not expected to have clinical s ignificance because a C>T change at this position does not diverge from the spli ce consensus sequence and is therefore unlikely to impact splicing. In addition, it has been identified in 0.5% (49/10244) of African chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org;.dbSNP rs144850734).
GeneDx RCV000037344 SCV000170046 benign not specified 2014-03-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000228374 SCV000287326 benign Dilated cardiomyopathy 1JJ 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000228374 SCV002805199 likely benign Dilated cardiomyopathy 1JJ 2021-08-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037344 SCV004029194 benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037344 SCV001922595 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727527 SCV001972812 likely benign not provided no assertion criteria provided clinical testing

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