Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213260 | SCV000270970 | likely benign | not specified | 2015-09-30 | criteria provided, single submitter | clinical testing | c.542+15G>A in intron 3 of TSPEAR: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence, an d it is not predicted to impact splicing. It has it has been identified in 0.12 % (9/7686) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org, dbSNP rs587599565). |
Gene |
RCV000509308 | SCV001983169 | likely benign | not provided | 2021-04-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000509308 | SCV003030508 | likely benign | not provided | 2022-10-21 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000509308 | SCV000606917 | not provided | not provided | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |