Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000398993 | SCV000332215 | likely benign | not specified | 2015-06-15 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000398993 | SCV000597097 | likely benign | not specified | 2016-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000971148 | SCV001118770 | benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000971148 | SCV001814595 | likely benign | not provided | 2020-11-27 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21344632) |
Ce |
RCV000971148 | SCV004164023 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SLC34A3: BP4, BP7 |
ARUP Laboratories, |
RCV003600373 | SCV004563916 | likely benign | Autosomal recessive hypophosphatemic bone disease | 2023-03-16 | criteria provided, single submitter | clinical testing |