Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734405 | SCV000862544 | uncertain significance | not provided | 2018-07-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004678812 | SCV005176249 | uncertain significance | Inborn genetic diseases | 2024-05-24 | criteria provided, single submitter | clinical testing | The c.142G>A (p.V48M) alteration is located in exon 3 (coding exon 3) of the TJP2 gene. This alteration results from a G to A substitution at nucleotide position 142, causing the valine (V) at amino acid position 48 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV000734405 | SCV005410717 | uncertain significance | not provided | 2024-05-06 | criteria provided, single submitter | clinical testing |