Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000454419 | SCV000539807 | uncertain significance | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Gene has no clear association with PCD, should be removed from gene list. - OB: One variant in the promoter region has been associated with risk for pulmonary fibrosis. The significance of missense variants is unclear. |
Ambry Genetics | RCV000454419 | SCV003590186 | uncertain significance | not specified | 2022-07-20 | criteria provided, single submitter | clinical testing | The c.12581G>C (p.S4194T) alteration is located in exon 31 (coding exon 31) of the MUC5B gene. This alteration results from a G to C substitution at nucleotide position 12581, causing the serine (S) at amino acid position 4194 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Department of Pathology and Laboratory Medicine, |
RCV001357337 | SCV001552781 | uncertain significance | not provided | no assertion criteria provided | clinical testing |