ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1180-2A>G

dbSNP: rs1064797294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488206 SCV000575359 likely pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375177 SCV001571783 likely pathogenic Waardenburg syndrome 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate

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