Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586020 | SCV000695683 | uncertain significance | not provided | 2016-02-19 | criteria provided, single submitter | clinical testing | Variant summary: c.211C>G affects a non-conserved nucleotide, resulting in amino acid change from Leu to Val. 4/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant was not found in 121178 control chromosomes. The variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Eurofins Ntd Llc |
RCV000586020 | SCV000702084 | uncertain significance | not provided | 2016-10-04 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000586020 | SCV004224248 | uncertain significance | not provided | 2022-09-02 | criteria provided, single submitter | clinical testing | BP2, PM2 |
Natera, |
RCV001834832 | SCV002085185 | uncertain significance | Galactosemia | 2018-09-21 | no assertion criteria provided | clinical testing |