Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000916917 | SCV001062174 | likely benign | not provided | 2022-08-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001336214 | SCV001529551 | uncertain significance | Microcephaly 20, primary, autosomal recessive | 2018-09-19 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ce |
RCV000916917 | SCV004125228 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | KIF14: BP4 |
Ambry Genetics | RCV004029403 | SCV004893553 | likely benign | Inborn genetic diseases | 2024-01-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |