Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000174649 | SCV000225982 | likely benign | not specified | 2015-03-23 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000174649 | SCV000272197 | uncertain significance | not specified | 2015-11-03 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Pro7961Ser va riant in NEB has not been previously reported in individuals with myopathy, but has been identified in 0.15% (97/66646) of European chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs193224180). C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. In summary, while the clinical si gnificance of the p.Pro7961Ser variant is uncertain, these data suggest that it is more likely to be benign. |
Invitae | RCV001080323 | SCV000640729 | likely benign | Nemaline myopathy 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000556596 | SCV001152432 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001080323 | SCV001291480 | uncertain significance | Nemaline myopathy 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Natera, |
RCV001080323 | SCV001454443 | uncertain significance | Nemaline myopathy 2 | 2019-11-11 | no assertion criteria provided | clinical testing |