Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000709166 | SCV000838485 | uncertain significance | Ataxia-telangiectasia syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002227210 | SCV002506169 | uncertain significance | not provided | 2022-01-13 | criteria provided, single submitter | clinical testing | The ATM c.1236G>T; p.Trp412Cys variant (rs79220522), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 584777). This variant is found in the general population with an overall allele frequency of 0.0024% (6/250182 alleles) in the Genome Aggregation Database. The tryptophan at codon 412 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.494). Due to limited information, the clinical significance of this variant is uncertain at this time. |