ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4568+12C>G (rs72933642)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036151 SCV000059803 benign not specified 2015-10-05 criteria provided, single submitter clinical testing c.4568+12C>G in intron 34 of MYO7A: This variant is not expected to have clinica l significance because it is not located within the conserved splice consensus s equence. It has been identified in 8.6% (546/6314) of Finnish European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs72933642).
Illumina Clinical Services Laboratory,Illumina RCV000403942 SCV000374377 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314200 SCV000374378 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371272 SCV000374379 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing

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