Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003052741 | SCV003444990 | likely benign | Mucopolysaccharidosis type 1 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003294415 | SCV003991566 | uncertain significance | Inborn genetic diseases | 2023-06-06 | criteria provided, single submitter | clinical testing | The c.1271C>T (p.A424V) alteration is located in exon 9 (coding exon 9) of the IDUA gene. This alteration results from a C to T substitution at nucleotide position 1271, causing the alanine (A) at amino acid position 424 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |