Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587039 | SCV000697919 | benign | not provided | 2016-04-28 | criteria provided, single submitter | clinical testing | Variant summary: The variant of interest is located at a non-conserved intronic position, not widely known to affect splicing, with 5/5 in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2453/48344 (1/19), which exceeds the predicted maximum expected allele frequency for a pathogenic MAX variant of 1/40000000. The variant of interest, to our knowledge, has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories. Therefore, the variant of interest is classified as Benign. |
Gene |
RCV000587039 | SCV001801331 | likely benign | not provided | 2019-08-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003517230 | SCV004269392 | benign | Hereditary pheochromocytoma-paraganglioma | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000587039 | SCV001808602 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV001692217 | SCV001906426 | benign | not specified | no assertion criteria provided | clinical testing |