Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000973902 | SCV001121691 | likely benign | Schimke immuno-osseous dysplasia | 2024-04-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV005278703 | SCV005947378 | uncertain significance | Inborn genetic diseases | 2024-12-13 | criteria provided, single submitter | clinical testing | The c.117C>T (p.G39G) alteration is located in exon 3 (coding exon 1) of the SMARCAL1 gene. This alteration consists of a C to T substitution at nucleotide position 117. This nucleotide substitution does not change the amino acid at codon 39. However, this change occurs in the last nucleotide of Exon 3 (c.-58_811) which makes it likely to have some effect on normal mRNA splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000973902 | SCV001453738 | likely benign | Schimke immuno-osseous dysplasia | 2020-09-16 | no assertion criteria provided | clinical testing |