Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049357 | SCV001213403 | uncertain significance | Lafora disease | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002553200 | SCV003624935 | uncertain significance | Inborn genetic diseases | 2022-05-26 | criteria provided, single submitter | clinical testing | The c.203G>C (p.C68S) alteration is located in exon 1 (coding exon 1) of the NHLRC1 gene. This alteration results from a G to C substitution at nucleotide position 203, causing the cysteine (C) at amino acid position 68 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |