ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=)

gnomAD frequency: 0.00251  dbSNP: rs77367833
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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, Mass General Brigham Personalized Medicine RCV000037375 SCV000061032 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ser1431Ser in Exon 32 of LAMA4: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence and has been identified in 0.9% (33/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs77367833).
GeneDx RCV000037375 SCV000170038 benign not specified 2014-05-15 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 RCV000469524 SCV000556701 benign Dilated cardiomyopathy 1JJ 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000469524 SCV002801263 likely benign Dilated cardiomyopathy 1JJ 2022-02-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003421949 SCV004160009 benign not provided 2022-09-01 criteria provided, single submitter clinical testing LAMA4: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000469524 SCV004564802 benign Dilated cardiomyopathy 1JJ 2023-09-06 criteria provided, single submitter clinical testing

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