ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.4818G>A (p.Ser1606=) (rs202132383)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726429 SCV000344554 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361326 SCV000438336 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266596 SCV000438337 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000350880 SCV000711117 likely benign not specified 2016-06-09 criteria provided, single submitter clinical testing p.Ser1606Ser in exon 34 of MYH9: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, and it is not locat ed within the splice consensus sequence. It has been identified in 25/66702 Eur opean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs202132383).
Invitae RCV000726429 SCV001111426 likely benign not provided 2019-02-14 criteria provided, single submitter clinical testing

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