ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.666+15G>C

gnomAD frequency: 0.00012  dbSNP: rs201698367
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Total submissions: 2
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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 RCV000603205 SCV000711493 likely benign not specified 2018-01-09 criteria provided, single submitter clinical testing c.666+15G>C in intron 4 of MITF: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 21/30630 South Asian chromosomes by the Genome A ggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs201698367 ).
Labcorp Genetics (formerly Invitae), Labcorp RCV002531132 SCV003014561 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-02-01 criteria provided, single submitter clinical testing

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