Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597009 | SCV000702649 | uncertain significance | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375271 | SCV001571797 | uncertain significance | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PP3_Strong |
Invitae | RCV000597009 | SCV001597533 | likely benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000597009 | SCV002820548 | uncertain significance | not provided | 2022-12-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Ambry Genetics | RCV002531005 | SCV003728542 | uncertain significance | Inborn genetic diseases | 2021-08-09 | criteria provided, single submitter | clinical testing | The c.2014G>A (p.D672N) alteration is located in exon 22 (coding exon 22) of the COL11A1 gene. This alteration results from a G to A substitution at nucleotide position 2014, causing the aspartic acid (D) at amino acid position 672 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |