Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692869 | SCV000820716 | likely benign | Aortic aneurysm, familial thoracic 7 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000692869 | SCV000898841 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2018-04-23 | criteria provided, single submitter | clinical testing | MYLK NM_053025.3 exon 23 c.3832-8G>C: This variant has not been reported in the literature but is present in 4/33558 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs202218458). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Gene |
RCV001553457 | SCV001774328 | likely benign | not provided | 2020-10-16 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224378 | SCV003920251 | uncertain significance | Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 2021-03-30 | criteria provided, single submitter | clinical testing | MYLK NM_053025.3 exon 23 c.3832-8G>C: This variant has not been reported in the literature but is present in 4/33558 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs202218458). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |