Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781471 | SCV000919528 | uncertain significance | not specified | 2018-01-08 | criteria provided, single submitter | clinical testing | Variant summary: The HRAS c.291-9A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing, though 1 of these tools indicates this variant to strengthen the nearby canonical splice acceptor site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in ~246194 control chromosomes (in ExAC and gnomAD). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. The c.291-9A>G was identified in an ostensibly healthy adult without apparent clinical features of NSRD. Taken together, this variant is classified as VUS-possibly benign. |
Labcorp Genetics |
RCV000864531 | SCV001005341 | likely benign | Costello syndrome | 2023-08-25 | criteria provided, single submitter | clinical testing |