Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002983618 | SCV003702840 | uncertain significance | Inborn genetic diseases | 2024-01-22 | criteria provided, single submitter | clinical testing | The c.167A>G (p.H56R) alteration is located in exon 2 (coding exon 2) of the ABCC6 gene. This alteration results from a A to G substitution at nucleotide position 167, causing the histidine (H) at amino acid position 56 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV005021743 | SCV005638686 | uncertain significance | Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 | 2024-02-20 | criteria provided, single submitter | clinical testing |