Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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). |
Gene |
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, |
RCV000469524 | SCV002801263 | likely benign | Dilated cardiomyopathy 1JJ | 2022-02-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003421949 | SCV004160009 | benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | LAMA4: BS1, BS2 |
ARUP Laboratories, |
RCV000469524 | SCV004564802 | benign | Dilated cardiomyopathy 1JJ | 2023-09-06 | criteria provided, single submitter | clinical testing |