Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000270443 | SCV000204117 | benign | not specified | 2016-05-28 | criteria provided, single submitter | clinical testing | c.6614_6634dup (p.Met2205_Ser221dup) in exon49 of MYO7A: This variant is not exp ected to have clinical significance because it has been identified in 2% (73/340 2) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs111033388). |
Eurofins Ntd Llc |
RCV000270443 | SCV000336283 | likely benign | not specified | 2015-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000881565 | SCV000714127 | likely benign | not provided | 2022-05-24 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Labcorp Genetics |
RCV000881565 | SCV001024751 | benign | not provided | 2025-02-02 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000881565 | SCV001797652 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000881565 | SCV001923982 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000881565 | SCV001966665 | likely benign | not provided | no assertion criteria provided | clinical testing |