Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000841035 | SCV000982992 | likely benign | not provided | 2018-03-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001088619 | SCV001005273 | likely benign | Supravalvar aortic stenosis | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002538303 | SCV003569871 | uncertain significance | Inborn genetic diseases | 2021-08-30 | criteria provided, single submitter | clinical testing | The c.1322C>T (p.A441V) alteration is located in exon 21 (coding exon 21) of the ELN gene. This alteration results from a C to T substitution at nucleotide position 1322, causing the alanine (A) at amino acid position 441 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |