ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.5323A>G (p.Lys1775Glu) (rs145139708)

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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 RCV000037567 SCV000061225 likely benign not specified 2017-03-26 criteria provided, single submitter clinical testing p.Lys1775Glu in exon 38 of MYH9: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (75/25454) of Finnish chromos omes, including 1 homozygote, by the Genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org; dbSNP rs145139708).
Illumina Clinical Services Laboratory,Illumina RCV000315373 SCV000438312 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353893 SCV000438313 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514769 SCV000610237 likely benign not provided 2017-06-14 criteria provided, single submitter clinical testing

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