ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) (rs60103800)

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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 RCV000155231 SCV000204917 benign not specified 2015-08-11 criteria provided, single submitter clinical testing p.His1029Arg in Exon 24 of MYO7A: This variant is not expected to have clinical significance because it has been identified in 0.8% (81/8690) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs60103800).
Illumina Clinical Services Laboratory,Illumina RCV000288323 SCV000374329 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345669 SCV000374330 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388720 SCV000374331 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155231 SCV000706180 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing

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