ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1554+7C>T (rs150114658)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155228 SCV000204914 likely benign not specified 2015-07-21 criteria provided, single submitter clinical testing c.1554+7C>T in intron 13 of MYO7A: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 0.3% (6/2216) of African chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs150114 658).
Illumina Clinical Services Laboratory,Illumina RCV000287143 SCV000374246 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342098 SCV000374247 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402760 SCV000374248 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155228 SCV000704072 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing
Invitae RCV000903441 SCV001047907 likely benign not provided 2018-11-26 criteria provided, single submitter clinical testing

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