Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220481 | SCV000270405 | likely benign | not specified | 2015-04-17 | criteria provided, single submitter | clinical testing | p.Glu208Gly in exon 4 of MITF: This variant is not expected to have clinical sig nficance because it has been in 0.22% (19/8540) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200 108255). |
Invitae | RCV000906823 | SCV001051487 | likely benign | Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001778802 | SCV002015438 | likely benign | not provided | 2021-05-12 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316192 | SCV004015857 | likely benign | Melanoma, cutaneous malignant, susceptibility to, 8 | 2023-07-07 | criteria provided, single submitter | clinical testing |