Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001358811 | SCV001554663 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2022-03-03 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003738053 | SCV004562641 | uncertain significance | not provided | 2023-09-19 | criteria provided, single submitter | clinical testing | The FLNA c.1555G>A; p.Val519Met variant (rs938952718), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1050855). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.547). Due to limited information, the clinical significance of this variant is uncertain at this time. |