Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000216697 | SCV000171355 | benign | not specified | 2017-12-28 | 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 | RCV001083341 | SCV000262421 | benign | Multiple endocrine neoplasia, type 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000216697 | SCV000271303 | benign | not specified | 2018-03-12 | criteria provided, single submitter | clinical testing | p.Ala35Ala in exon 2 of RET: This variant is not expected to have clinical signi ficance because it has been identified in 26.5% (72821/275336) of chromosomes in the Genome Aggregation Database (gnomAD; http://gnomad.broadinstitute.org/; dbS NP rs1800858). There are several studies suggesting that the presence of this va riant in the heterozygous or homozygous state may be associated with a risk for Hirschprungs disease; however, the study sizes are limited and an updated study taking into account the high prevalence of this variant in the general populatio n would be necessary to clarify the association of this variant to disease. ACMG /AMP Criteria Applied: BA1. |
Athena Diagnostics Inc | RCV000712294 | SCV000842750 | benign | not provided | 2017-09-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000014967 | SCV000035223 | risk factor | Hirschsprung disease, susceptibility to, 1 | 2000-08-01 | no assertion criteria provided | literature only |