ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.3216G>A (p.Ala1072=) (rs139441456)

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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 RCV000155182 SCV000204868 likely benign not specified 2017-03-16 criteria provided, single submitter clinical testing p.Ala1072Ala in Exon 25 of MYH9: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (112/ 126526) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnoma d.broadinstitute.org; dbSNP rs139441456).
Illumina Clinical Services Laboratory,Illumina RCV000265835 SCV000438400 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320933 SCV000438401 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing

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