ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.286-5C>T (rs111033471)

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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 RCV000036096 SCV000059748 benign not specified 2012-02-20 criteria provided, single submitter clinical testing 286-5C>T in intron 5 of MYO7A: This variant is not expected to have clinical sig nificance because it has been identified in 4.4% (163/3706) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs111033471).
Illumina Clinical Services Laboratory,Illumina RCV000287286 SCV000374183 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335289 SCV000374184 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373703 SCV000374185 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000036096 SCV000730251 benign not specified 2018-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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