Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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). |