ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.90C>T (p.Asn30=)

gnomAD frequency: 0.00001  dbSNP: rs542554847
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Total submissions: 1
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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 RCV000611097 SCV000731963 likely benign not specified 2017-09-11 criteria provided, single submitter clinical testing p.Asn30Asn in exon 2 of LAMA4: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. It has been identified in 2/32432 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinsti tute.org; dbSNP rs542554847).

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