Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634494 | SCV000755810 | likely benign | Dyskeratosis congenita | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003258894 | SCV003949606 | uncertain significance | Inborn genetic diseases | 2023-05-26 | criteria provided, single submitter | clinical testing | The c.2461G>T (p.A821S) alteration is located in exon 14 (coding exon 14) of the CTC1 gene. This alteration results from a G to T substitution at nucleotide position 2461, causing the alanine (A) at amino acid position 821 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |