Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002551715 | SCV003667531 | uncertain significance | Inborn genetic diseases | 2022-12-21 | criteria provided, single submitter | clinical testing | The c.1762C>T (p.P588S) alteration is located in exon 2 (coding exon 2) of the SALL1 gene. This alteration results from a C to T substitution at nucleotide position 1762, causing the proline (P) at amino acid position 588 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Department of Pediatrics, |
RCV001252901 | SCV001164044 | uncertain significance | Microcephaly | no assertion criteria provided | research |