ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)

gnomAD frequency: 0.00322  dbSNP: rs55662069
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Total submissions: 10
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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 RCV000038293 SCV000061962 benign not specified 2015-05-14 criteria provided, single submitter clinical testing p.Thr845Ile in exon 25 of MYO6: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (266/66676) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs55662069).
Eurofins Ntd Llc (ga) RCV000038293 SCV000336216 likely benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160926 SCV001322765 uncertain significance Autosomal recessive nonsyndromic hearing loss 37 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001160927 SCV001322766 benign Autosomal dominant nonsyndromic hearing loss 22 2017-06-20 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001253835 SCV001429709 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001253835 SCV001833475 benign not provided 2019-10-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18212818, 30180840)
CeGaT Center for Human Genetics Tuebingen RCV001253835 SCV002545434 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing MYO6: BS1
PreventionGenetics, part of Exact Sciences RCV004534810 SCV004749376 likely benign MYO6-related disorder 2020-12-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001253835 SCV001926845 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001253835 SCV001966215 likely benign not provided no assertion criteria provided clinical testing

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