ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.5241G>A (p.Val1747=)

gnomAD frequency: 0.00001  dbSNP: rs375447272
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Total submissions: 3
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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 RCV000600818 SCV000710908 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing p.Val1740Val in exon 38 of LAMA4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/66658 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs375447272).
Ambry Genetics RCV002350433 SCV002645995 likely benign Cardiovascular phenotype 2021-12-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002532712 SCV003517356 likely benign Dilated cardiomyopathy 1JJ 2022-03-31 criteria provided, single submitter clinical testing

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