Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000358815 | SCV000339665 | uncertain significance | not provided | 2016-03-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002519221 | SCV003288374 | likely benign | Mucopolysaccharidosis type 6 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165746 | SCV003875095 | uncertain significance | Inborn genetic diseases | 2023-03-02 | criteria provided, single submitter | clinical testing | The c.185T>A (p.F62Y) alteration is located in exon 1 (coding exon 1) of the ARSB gene. This alteration results from a T to A substitution at nucleotide position 185, causing the phenylalanine (F) at amino acid position 62 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |