Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000965602 | SCV000567783 | likely benign | not provided | 2020-09-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000965602 | SCV001112873 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000965602 | SCV002822636 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | LRPPRC: BP4, BS1 |
Ambry Genetics | RCV002526550 | SCV003733517 | uncertain significance | Inborn genetic diseases | 2021-06-21 | criteria provided, single submitter | clinical testing | The c.3034C>T (p.P1012S) alteration is located in exon 28 (coding exon 28) of the LRPPRC gene. This alteration results from a C to T substitution at nucleotide position 3034, causing the proline (P) at amino acid position 1012 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001828499 | SCV002076555 | likely benign | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2020-01-19 | no assertion criteria provided | clinical testing |