ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.18C>T (p.Ala6=) (rs141055332)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213651 SCV000269284 benign not specified 2015-01-21 criteria provided, single submitter clinical testing p.Ala6Ala in c.18C>T of MYH9: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.10% (96/8726) of E ast Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs141055332).
Illumina Clinical Services Laboratory,Illumina RCV000338428 SCV000438496 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406587 SCV000438497 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000910530 SCV001055400 benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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