ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.4344+10C>T (rs200977419)

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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 RCV000214641 SCV000270475 likely benign not specified 2017-06-15 criteria provided, single submitter clinical testing c.4344+10C>T in intron 31 of MYH9: 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 95/126020 of European chromosomes by the Genom e Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200977 419).
PreventionGenetics,PreventionGenetics RCV000214641 SCV000309061 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356052 SCV000438356 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261215 SCV000438357 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000214641 SCV000723967 likely benign not specified 2017-10-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000881831 SCV001025028 likely benign not provided 2018-07-10 criteria provided, single submitter clinical testing

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