ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.623A>G (p.Glu208Gly)

gnomAD frequency: 0.00006  dbSNP: rs200108255
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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
GeneDx RCV001778802 SCV002015438 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316192 SCV004015857 likely benign Melanoma, cutaneous malignant, susceptibility to, 8 2023-07-07 criteria provided, single submitter clinical testing

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