ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.1546+7_1546+8del

dbSNP: rs3831003
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Total submissions: 6
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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 RCV000038286 SCV000061955 benign not specified 2012-08-14 criteria provided, single submitter clinical testing 1546+7_1546+8del in intron 15 of MYO6: This variant is not expected to have clin ical significance because it has been identified in 16% (93/572) of Asian chromo somes by 1000 Genomes Project (dbSNP rs138200430).
Illumina Laboratory Services, Illumina RCV000272764 SCV000465390 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330218 SCV000465391 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001618231 SCV001844788 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV001618231 SCV002403983 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477102 SCV002803715 benign Autosomal dominant nonsyndromic hearing loss 22; Autosomal recessive nonsyndromic hearing loss 37 2021-07-30 criteria provided, single submitter clinical testing

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