Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731090 | SCV000858863 | likely benign | not specified | 2018-01-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000898569 | SCV001042781 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000898569 | SCV001777618 | likely benign | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28004384, 22775483) |
Genome- |
RCV003453528 | SCV004178635 | likely benign | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918204 | SCV004740501 | likely benign | ASPM-related disorder | 2020-10-27 | 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). |