Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589255 | SCV000694394 | uncertain significance | not provided | 2016-03-31 | criteria provided, single submitter | clinical testing | Variant Summary: The c.2044A>G variant involves the alteration of a conserved nucleotide and 2/4 in silico tools predict a neutral outcome. The variant is absent from the large, broad ExAC control population. The variant of interest has not, to our knowledge, 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. |
Fulgent Genetics, |
RCV002491160 | SCV002796349 | uncertain significance | Wilson disease | 2022-01-11 | criteria provided, single submitter | clinical testing |