Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004870295 | SCV005509050 | uncertain significance | not specified | 2024-08-05 | criteria provided, single submitter | clinical testing | The c.628C>T (p.H210Y) alteration is located in exon 6 (coding exon 6) of the SLC30A7 gene. This alteration results from a C to T substitution at nucleotide position 628, causing the histidine (H) at amino acid position 210 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |