Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202909 | SCV000258070 | uncertain significance | not specified | 2015-06-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000912446 | SCV001057554 | likely benign | not provided | 2024-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002515503 | SCV003674389 | uncertain significance | Inborn genetic diseases | 2022-06-10 | criteria provided, single submitter | clinical testing | The c.143C>T (p.T48I) alteration is located in exon 1 (coding exon 1) of the HACD1 gene. This alteration results from a C to T substitution at nucleotide position 143, causing the threonine (T) at amino acid position 48 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |