Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721182 | SCV000238293 | likely benign | not provided | 2019-12-12 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000220902 | SCV000270986 | likely benign | not specified | 2015-11-12 | criteria provided, single submitter | clinical testing | p.Met5867Thr in exon 70 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, nine mammals have a Threonine (Thr) at this position. It has also been iden tified in 2/66616 European chromosomes by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org/; dbSNP rs374408615). |
Invitae | RCV000643152 | SCV000764839 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001721182 | SCV003822826 | uncertain significance | not provided | 2019-06-17 | criteria provided, single submitter | clinical testing |