ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.769+15C>T (rs201691359)

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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 RCV000155185 SCV000204871 likely benign not specified 2016-06-23 criteria provided, single submitter clinical testing c.769+15C>T in intron 07 of MYH9: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 39/66728 of European chromosomes and in 16/1157 8 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs201691359).
Illumina Clinical Services Laboratory,Illumina RCV000393035 SCV000438474 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308090 SCV000438475 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing

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