Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177011 | SCV000228815 | benign | not specified | 2014-07-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001707518 | SCV000605106 | benign | not provided | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000056129 | SCV000639506 | benign | Holoprosencephaly 3 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001707518 | SCV001935526 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32542401) |
Ce |
RCV001707518 | SCV004159353 | benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | SHH: BP4, BP7, BS1, BS2 |
Gene |
RCV000056129 | SCV000087207 | non-pathogenic | Holoprosencephaly 3 | 2013-08-29 | no assertion criteria provided | curation | Converted during submission to Benign. |