Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596852 | SCV000706731 | uncertain significance | not provided | 2017-03-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243211 | SCV003943538 | uncertain significance | Inborn genetic diseases | 2023-06-06 | criteria provided, single submitter | clinical testing | The c.11899C>G (p.Q3967E) alteration is located in exon 10 (coding exon 9) of the SACS gene. This alteration results from a C to G substitution at nucleotide position 11899, causing the glutamine (Q) at amino acid position 3967 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |