Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591298 | SCV000703349 | uncertain significance | not provided | 2016-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532414 | SCV003590252 | uncertain significance | Inborn genetic diseases | 2021-11-15 | criteria provided, single submitter | clinical testing | The c.17476G>T (p.A5826S) alteration is located in exon 93 (coding exon 92) of the SYNE1 gene. This alteration results from a G to T substitution at nucleotide position 17476, causing the alanine (A) at amino acid position 5826 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |