ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.924T>C (p.His308=) (rs143580603)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037401 SCV000061058 benign not specified 2013-02-22 criteria provided, single submitter clinical testing His301His in Exon 08 of LAMA4: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.4% (27/7020) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs143580603).
GeneDx RCV000037401 SCV000250521 benign not specified 2014-10-09 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 RCV000757426 SCV000287339 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757426 SCV000885643 benign not provided 2018-02-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769200 SCV000900576 likely benign Cardiomyopathy 2016-06-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000233966 SCV000734454 likely benign Dilated cardiomyopathy 1JJ no assertion criteria provided clinical testing

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