Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486500 | SCV000573862 | uncertain significance | not provided | 2017-03-03 | criteria provided, single submitter | clinical testing | The c.4867 C>T nucleotide change results in a synonymous amino acid substitution at a position that is conserved through mammals. Multiple in-silico splice prediction models predict this variant would not alter gene splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. No data are available from control populations to assess the frequency of this variant (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). |
Invitae | RCV001392204 | SCV001593843 | likely benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy | 2020-02-15 | criteria provided, single submitter | clinical testing |