Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720095 | SCV000520479 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV000641392 | SCV000763033 | likely benign | Nemaline myopathy 2 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Daryl Scott Lab, |
RCV000641392 | SCV002515308 | uncertain significance | Nemaline myopathy 2 | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524892 | SCV003685640 | uncertain significance | Inborn genetic diseases | 2021-10-29 | criteria provided, single submitter | clinical testing | The c.16070C>T (p.T5357I) alteration is located in exon 114 (coding exon 112) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 16070, causing the threonine (T) at amino acid position 5357 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001720095 | SCV003809642 | uncertain significance | not provided | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001720095 | SCV005412890 | uncertain significance | not provided | 2023-08-08 | criteria provided, single submitter | clinical testing | BP4, PM2_moderate |
Natera, |
RCV000641392 | SCV001460603 | uncertain significance | Nemaline myopathy 2 | 2020-01-17 | no assertion criteria provided | clinical testing |