ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.5143G>A (p.Gly1715Ser) (rs148109368)

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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 RCV000155173 SCV000204859 likely benign not specified 2017-05-16 criteria provided, single submitter clinical testing p.Gly1715Ser in exon 36 of MYH9: This variant is not expected to have clinical s ignificance because it has been identified in 0.2% (304/126554) European chromos omes by the Genome Aggregation Database, including 3 homozygotes (gnomAD, http:/ /gnomad.broadinstitute.org; dbSNP rs148109368). This frequency is higher than e xpected based on the estimated prevalence of 1-9/1,000,000 of MYH9-related disor der (www.orpha.net, MYH9-related disease, Orpha:182050).
Illumina Clinical Services Laboratory,Illumina RCV000357489 SCV000438316 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265008 SCV000438317 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000155173 SCV000727776 likely benign not specified 2018-02-26 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155173 SCV000859237 likely benign not specified 2018-02-01 criteria provided, single submitter clinical testing
Invitae RCV000900198 SCV001044502 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing

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