Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814405 | SCV000954814 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-11-24 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811501 | SCV002049928 | uncertain significance | not provided | 2021-11-09 | criteria provided, single submitter | clinical testing | The FLNA c.6457G>A, p.Asp2153Asn variant (rs782477734), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 657730). This variant is found in the Latino population with an allele frequency of 0.04% (11/27365 alleles, including 2 hemizygotes) in the Genome Aggregation Database. The asparagine at codon 2153 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.242). Due to limited information, the clinical significance of the p.Asp2153Asn variant is uncertain at this time. |
Ambry Genetics | RCV002363115 | SCV002659649 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-05-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |