Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001433636 | SCV001636427 | likely benign | Mucopolysaccharidosis type 6 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001433636 | SCV001781243 | likely benign | Mucopolysaccharidosis type 6 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002555180 | SCV003570912 | uncertain significance | Inborn genetic diseases | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.658A>G (p.I220V) alteration is located in exon 3 (coding exon 3) of the ARSB gene. This alteration results from a A to G substitution at nucleotide position 658, causing the isoleucine (I) at amino acid position 220 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |