Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002097641 | SCV002385627 | likely benign | not provided | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004045778 | SCV003630086 | uncertain significance | not specified | 2022-04-07 | criteria provided, single submitter | clinical testing | The c.820A>T (p.M274L) alteration is located in exon 9 (coding exon 8) of the CTSB gene. This alteration results from a A to T substitution at nucleotide position 820, causing the methionine (M) at amino acid position 274 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |