Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434067 | SCV000527691 | benign | not specified | 2017-09-12 | 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. |
Labcorp Genetics |
RCV000757397 | SCV000764330 | benign | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2024-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000434067 | SCV000885600 | benign | not specified | 2018-08-09 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001174203 | SCV001337329 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV000757397 | SCV002805504 | likely benign | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003311812 | SCV004010093 | benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | IGHMBP2: BP4, BS1, BS2 |
Breakthrough Genomics, |
RCV003311812 | SCV005215573 | likely benign | not provided | criteria provided, single submitter | not provided |