Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002515864 | SCV003251773 | likely benign | Multiple congenital exostosis | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905151 | SCV004718473 | uncertain significance | EXT1-related disorder | 2023-10-27 | criteria provided, single submitter | clinical testing | The EXT1 c.1430C>G variant is predicted to result in the amino acid substitution p.Pro477Arg. This variant has been reported in a patient with chordoma (Yepes et al. 2021. PubMed ID: 34070849); however, this variant was also found in an individual from a healthy, ancestrally diverse cohort (Table S1 in Bodian et al. 2014. PubMed ID: 24728327). This variant is reported in 0.039% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-118832021-G-C) and has been interpreted as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/134201/. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
ITMI | RCV000120874 | SCV000085042 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |