Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221537 | SCV000272078 | uncertain significance | not specified | 2015-01-19 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Arg31His vari ant in MYL3 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.15% (13/8764) of East Asian chromosomes by the Exo me Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1996399 40) and 1/427 healthy controls from one study (Kapplinger 2014). Arginine (Arg) at position 31 is not conserved in mammals or in evolutionarily distant species and 1 mammal species (manatee) carries a histidine (His) at this position, raisi ng the possibility that this change may be tolerated. In summary, while the clin ical significance of the p.Arg31His variant is uncertain, its presence in genera l population and lack of evolutionarily conservation suggest that it is more lik ely to be benign. |
Invitae | RCV000629148 | SCV000750064 | likely benign | Hypertrophic cardiomyopathy | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Color | RCV000771967 | SCV000904921 | uncertain significance | Cardiomyopathy | 2019-08-26 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852967 | SCV000995716 | likely benign | Amyloidogenic transthyretin amyloidosis | 2019-05-20 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771967 | SCV001333538 | benign | Cardiomyopathy | 2018-04-13 | criteria provided, single submitter | clinical testing |