Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088844 | SCV000634584 | likely benign | Familial aplasia of the vermis | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000839869 | SCV000981779 | likely benign | not provided | 2018-03-16 | 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. |
Baylor Genetics | RCV001335948 | SCV001529213 | uncertain significance | Joubert syndrome 1 | 2018-06-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002527750 | SCV003714435 | uncertain significance | Inborn genetic diseases | 2021-07-16 | criteria provided, single submitter | clinical testing | The c.623C>T (p.T208I) alteration is located in exon 1 (coding exon 1) of the INPP5E gene. This alteration results from a C to T substitution at nucleotide position 623, causing the threonine (T) at amino acid position 208 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV004541674 | SCV004799688 | likely benign | INPP5E-related disorder | 2019-05-22 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genetic Services Laboratory, |
RCV003151089 | SCV003839616 | likely benign | not specified | 2022-06-13 | no assertion criteria provided | clinical testing |