Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193514 | SCV000248513 | likely benign | not specified | 2015-05-04 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726074 | SCV000341753 | uncertain significance | not provided | 2016-05-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003512024 | SCV001086020 | benign | Borjeson-Forssman-Lehmann syndrome | 2023-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937710 | SCV004755398 | likely benign | PHF6-related condition | 2022-02-26 | 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). |