Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004331099 | SCV004006651 | uncertain significance | not specified | 2023-04-07 | criteria provided, single submitter | clinical testing | The c.3089C>T (p.T1030M) alteration is located in exon 19 (coding exon 19) of the ASTN1 gene. This alteration results from a C to T substitution at nucleotide position 3089, causing the threonine (T) at amino acid position 1030 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV003420654 | SCV004123850 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ASTN1: BP4 |