Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180749 | SCV000233235 | pathogenic | not provided | 2016-02-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001266189 | SCV001444361 | pathogenic | Inborn genetic diseases | 2018-03-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003390903 | SCV004121224 | pathogenic | SYNE1-related condition | 2022-11-15 | criteria provided, single submitter | clinical testing | The SYNE1 c.17603_17607del5 variant is predicted to result in a frameshift and premature protein termination (p.Asp5868Alafs*13). This variant has been reported in a family with cerebellar ataxia (Reported as 334338-334342delATTTG in Gros-Louis et al 2007. PubMed ID: 17159980). This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-152615124-GCAAAT-G). Frameshift variants in SYNE1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
OMIM | RCV002271991 | SCV000022576 | pathogenic | Autosomal recessive ataxia, Beauce type | 2007-01-01 | no assertion criteria provided | literature only |