Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000415504 | SCV000328355 | benign | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 2016-09-03 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000353018 | SCV000341251 | likely benign | not specified | 2016-05-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000959928 | SCV001106869 | likely benign | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000415504 | SCV001138776 | likely benign | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000959928 | SCV003917232 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | ALX1: BS2 |
Prevention |
RCV003920126 | SCV004728960 | likely benign | ALX1-related condition | 2019-04-30 | 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). |