ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3750+9G>A (rs111033252)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036126 SCV000059778 benign not specified 2012-11-29 criteria provided, single submitter clinical testing 3750+9G>A in intron 29 of MYO7A: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (31/8386) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS/; dbSNP rs111033252)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724300 SCV000228690 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332524 SCV000374347 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389407 SCV000374348 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292943 SCV000374349 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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