ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.2500-14A>G (rs199505086)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151343 SCV000199317 likely benign not specified 2015-11-12 criteria provided, single submitter clinical testing c.2500-14A>G variant in intron 20 of MYH9: This variant is not expected to have clinical significance because it does not affect the conserved positions of the 3' splice site and computational tools do not suggest an impact to splicing. In addition, it has also been identified in 0.12% (20/16438) of South Asian chromos omes and in 0.1% (54/65316) of European chromosomes by the Exome Aggregation Con sortium (ExAC, http://exac.broadinstitute.org;dbSNP rs199505086).
Illumina Clinical Services Laboratory,Illumina RCV000261254 SCV000438420 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332858 SCV000438421 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing

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