Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626973 | SCV000747676 | uncertain significance | Sensorineural hearing loss disorder | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003352944 | SCV004077504 | uncertain significance | Inborn genetic diseases | 2023-09-13 | criteria provided, single submitter | clinical testing | The c.2150A>G (p.N717S) alteration is located in exon 10 (coding exon 10) of the ESPN gene. This alteration results from a A to G substitution at nucleotide position 2150, causing the asparagine (N) at amino acid position 717 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724104 | SCV001954621 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001724104 | SCV001969205 | uncertain significance | not provided | no assertion criteria provided | clinical testing |