Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734217 | SCV000862341 | uncertain significance | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000734217 | SCV001630150 | likely benign | not provided | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734217 | SCV001825409 | uncertain significance | not provided | 2019-08-07 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32942997, 24752540) |