Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177929 | SCV000229891 | likely benign | not specified | 2015-06-04 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000430461 | SCV000511266 | likely benign | not provided | 2016-07-22 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Laboratory for Molecular Medicine, |
RCV000177929 | SCV000711163 | benign | not specified | 2017-11-27 | criteria provided, single submitter | clinical testing | Ile1775Thr in Exon 38 of MYO7A: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (143/16558) of African chromos omes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.or g; dbSNP rs115123584). |
Gene |
RCV000430461 | SCV000728037 | likely benign | not provided | 2020-10-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19375528) |
Invitae | RCV000430461 | SCV001032615 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927654 | SCV004740921 | likely benign | MYO7A-related condition | 2019-02-26 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Clinical Genetics, |
RCV000430461 | SCV001919698 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000430461 | SCV001968694 | likely benign | not provided | no assertion criteria provided | clinical testing |