ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) (rs201152817)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037353 SCV000061010 likely benign not specified 2015-03-11 criteria provided, single submitter clinical testing p.Ser88Ser in exon 3 of LAMA4: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction. It has been identified in 0.3% (50/16508) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs201152817).
Ambry Genetics RCV000618264 SCV000737235 likely benign Cardiovascular phenotype 2017-02-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769212 SCV000900588 benign Cardiomyopathy 2017-09-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000611665 SCV000734458 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

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