Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591785 | SCV000708143 | uncertain significance | not provided | 2017-05-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764589 | SCV000895684 | uncertain significance | Frank-Ter Haar syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004024825 | SCV004948446 | uncertain significance | Inborn genetic diseases | 2022-05-16 | criteria provided, single submitter | clinical testing | The c.2189C>T (p.P730L) alteration is located in exon 13 (coding exon 13) of the SH3PXD2B gene. This alteration results from a C to T substitution at nucleotide position 2189, causing the proline (P) at amino acid position 730 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |