Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001651697 | SCV001862115 | benign | not provided | 2020-03-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501987 | SCV002806318 | likely benign | Coffin-Siris syndrome 1 | 2021-09-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001651697 | SCV003242831 | uncertain significance | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 96 of the ARID1B protein (p.His96Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ARID1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1245708). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |