ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.1566G>A (p.Pro522=)

gnomAD frequency: 0.00054  dbSNP: rs145517108
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726041 SCV000341416 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000311142 SCV000711120 likely benign not specified 2016-08-02 criteria provided, single submitter clinical testing p.Pro522Pro in exon 14 of MYH9: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.1% (12/10304) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs145517108).
GeneDx RCV000726041 SCV001816915 likely benign not provided 2020-06-29 criteria provided, single submitter clinical testing
Invitae RCV000726041 SCV002359222 benign not provided 2023-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535390 SCV004756325 likely benign MYH9-related disorder 2019-03-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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