Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000821405 | SCV000962160 | benign | Methylmalonic acidemia with homocystinuria, type cblX | 2023-11-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537503 | SCV003735123 | uncertain significance | Inborn genetic diseases | 2021-08-12 | criteria provided, single submitter | clinical testing | The c.3563C>T (p.S1188L) alteration is located in exon 17 (coding exon 17) of the HCFC1 gene. This alteration results from a C to T substitution at nucleotide position 3563, causing the serine (S) at amino acid position 1188 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |