Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176993 | SCV000228793 | benign | not specified | 2015-04-09 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000176993 | SCV000302629 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000176993 | SCV000516528 | benign | not specified | 2016-09-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001573046 | SCV000640379 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001573046 | SCV001156949 | benign | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277385 | SCV002566631 | benign | Connective tissue disorder | 2021-12-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492768 | SCV002799263 | likely benign | Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001573046 | SCV001798348 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000176993 | SCV001808332 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000176993 | SCV001971696 | benign | not specified | no assertion criteria provided | clinical testing |