ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5275-10del

dbSNP: rs552643559
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156416 SCV000206134 benign not specified 2014-02-20 criteria provided, single submitter clinical testing 5275-10delT in intron 37 of MYH9: This variant is not expected to have clinical significance because it has been identified in 1.1% (47/4264) of African America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/).
Eurofins Ntd Llc (ga) RCV000156416 SCV000344101 benign not specified 2016-07-28 criteria provided, single submitter clinical testing
GeneDx RCV001582633 SCV001819626 likely benign not provided 2022-10-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001582633 SCV002422840 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505178 SCV002806586 likely benign Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2021-08-25 criteria provided, single submitter clinical testing

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