Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000180764 | SCV000233252 | benign | not specified | 2015-02-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081238 | SCV000640639 | likely benign | Nemaline myopathy 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000586460 | SCV000697810 | benign | not provided | 2017-04-24 | criteria provided, single submitter | clinical testing | Variant summary: The NEB c.19285_19286delinsAA (p.Ala6429delinsAsn) variant causes a missense change involving the alteration of a conserved nucleotide. One in silico tool predicts a damaging outcome for this variant. This variant was found in 570/100068 control chromosomes at a frequency of 0.0056961, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign. |
Athena Diagnostics Inc | RCV000586460 | SCV001144710 | benign | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing |