Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Biochemistry Laboratory, |
RCV000186224 | SCV000239548 | benign | Primary hyperoxaluria, type I | 2023-12-01 | criteria provided, single submitter | clinical testing | Found in cis with c.557C>T in two unrelated individuals. ACMG:BS1 BS2 BP6 |
Illumina Laboratory Services, |
RCV000186224 | SCV000429365 | likely benign | Primary hyperoxaluria, type I | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Eurofins Ntd Llc |
RCV000594889 | SCV000700569 | benign | not specified | 2015-08-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001514944 | SCV001722914 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001514944 | SCV001950701 | benign | not provided | 2019-06-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 20981092, 24205397, 21228398, 19245173, 27884173, 28906061, 30341509, 33457257) |
Fulgent Genetics, |
RCV000186224 | SCV002799178 | benign | Primary hyperoxaluria, type I | 2022-04-16 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001514944 | SCV005261960 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV000186224 | SCV002076468 | benign | Primary hyperoxaluria, type I | 2019-11-15 | no assertion criteria provided | clinical testing |