Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726247 | SCV000343155 | pathogenic | not provided | 2016-07-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726247 | SCV001769535 | pathogenic | not provided | 2022-01-10 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16382316, 31130284, 25525159, 1301935, 25099932, 25674028, 28509178, 27717089, 15300855, 7959703, 29302074, 29620724, 30510438, 30109220, 32552793) |
3billion | RCV000373455 | SCV002058668 | pathogenic | Osteopetrosis with renal tubular acidosis | 2022-01-03 | criteria provided, single submitter | clinical testing | Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS).The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000288909). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
OMIM | RCV000373455 | SCV000021116 | pathogenic | Osteopetrosis with renal tubular acidosis | 1992-01-01 | no assertion criteria provided | literature only | |
Baylor Genetics | RCV000373455 | SCV000328860 | pathogenic | Osteopetrosis with renal tubular acidosis | 2015-06-08 | no assertion criteria provided | clinical testing | Our laboratory reported three molecular diagnoses in CA2 (NM_000067.2, c.232+1G>A), MCCC2 (NM_022132.4, c.1015G>A), and SPG11 (NM_025137.3, c.6100C>T) in one individual with clinical features of global developmental delay, developmental regression, autistic features, intellectual disability, hypotonia, ataxia, dysmorphic features, short stature, microcephaly, hyperextensibility, failure to thrive, structural brain abnormalities, skeletal abnormalities, and limb malformation. The CA2 variant has been previously reported as disease-causing [PMID 1301935]. Heterozygotes would be expected to be asymptomatic carriers. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000373455 | SCV000746078 | pathogenic | Osteopetrosis with renal tubular acidosis | 2017-09-18 | no assertion criteria provided | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000373455 | SCV001132952 | pathogenic | Osteopetrosis with renal tubular acidosis | 2019-08-25 | no assertion criteria provided | clinical testing |