Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001332700 | SCV001525090 | uncertain significance | Congenital bile acid synthesis defect 2 | 2020-06-03 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002546592 | SCV003622901 | uncertain significance | Inborn genetic diseases | 2022-06-03 | criteria provided, single submitter | clinical testing | The c.647T>C (p.I216T) alteration is located in exon 6 (coding exon 6) of the AKR1D1 gene. This alteration results from a T to C substitution at nucleotide position 647, causing the isoleucine (I) at amino acid position 216 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |