ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.2229+13G>T

gnomAD frequency: 0.00377  dbSNP: rs139146113
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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, Mass General Brigham Personalized Medicine RCV000151346 SCV000199320 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 2229+13G>T in Intron 18 of MYH9: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 1.6% (59/3738) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs139146113).
GeneDx RCV001560621 SCV001783073 likely benign not provided 2018-08-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001560621 SCV002400676 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478430 SCV002797466 benign Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2021-10-13 criteria provided, single submitter clinical testing

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