Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000277083 | SCV000340757 | uncertain significance | not provided | 2016-04-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494862 | SCV002797150 | uncertain significance | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2021-07-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000277083 | SCV002820745 | uncertain significance | not provided | 2022-07-15 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002518973 | SCV003709134 | uncertain significance | Inborn genetic diseases | 2021-10-26 | criteria provided, single submitter | clinical testing | The c.3277G>A (p.A1093T) alteration is located in exon 31 (coding exon 31) of the LRPPRC gene. This alteration results from a G to A substitution at nucleotide position 3277, causing the alanine (A) at amino acid position 1093 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |