Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000910558 | SCV001055428 | likely benign | not provided | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986392 | SCV001135387 | uncertain significance | Fibrochondrogenesis 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000910558 | SCV001789983 | uncertain significance | not provided | 2023-07-14 | criteria provided, single submitter | clinical testing | Has been published in association with early-onset sensorineural hearing loss and in a patient with multiple congential anomalies (Miyagawa et al., 2013; Yang et al., 2013; Wang et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 33502061, 23767834, 32112773, 23967202) |
Revvity Omics, |
RCV000910558 | SCV003831156 | uncertain significance | not provided | 2020-04-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003392688 | SCV004120684 | uncertain significance | COL11A1-related condition | 2023-08-03 | criteria provided, single submitter | clinical testing | The COL11A1 c.560C>T variant is predicted to result in the amino acid substitution p.Thr187Met. This variant was reported in an individual with early onset hearing loss (Table S2, Miyagawa. 2013. PubMed ID: 23967202) and in the compound heterozygous state along with another potentially disease causing variant in a patient with multiple congenital anomalies (Table S2, Wang. 2021. PubMed ID: 33502061). This variant is reported in 0.38% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-103540265-G-A), which is likely too high to be a fully penetrant disease causing variant for autosomal dominant disease in this gene. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |