ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.705+14C>T (rs142552338)

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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 RCV000218466 SCV000270482 likely benign not specified 2016-03-22 criteria provided, single submitter clinical testing c.705+14C>T in Intron 6 of MYH9: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.2% (15/7020) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP r s142552338) and in 0.1% (95/ 65700) of European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142552338).
Illumina Clinical Services Laboratory,Illumina RCV000360582 SCV000438476 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405481 SCV000438477 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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