Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729618 | SCV000857293 | uncertain significance | not provided | 2017-10-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001469701 | SCV001673786 | likely benign | Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 2018-11-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892617 | SCV004710039 | likely benign | GLI2-related condition | 2022-11-15 | 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). |