ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.2500-14A>G

gnomAD frequency: 0.00031  dbSNP: rs199505086
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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 RCV000151343 SCV000199317 likely benign not specified 2015-11-12 criteria provided, single submitter clinical testing c.2500-14A>G variant in intron 20 of MYH9: This variant is not expected to have clinical significance because it does not affect the conserved positions of the 3' splice site and computational tools do not suggest an impact to splicing. In addition, it has also been identified in 0.12% (20/16438) of South Asian chromos omes and in 0.1% (54/65316) of European chromosomes by the Exome Aggregation Con sortium (ExAC, http://exac.broadinstitute.org;dbSNP rs199505086).
Illumina Laboratory Services, Illumina RCV000261254 SCV000438420 likely benign Autosomal dominant nonsyndromic hearing loss 17 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000332858 SCV000438421 likely benign MYH9-related disorder 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV002055989 SCV002402900 benign not provided 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498704 SCV002805678 likely benign Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2021-10-21 criteria provided, single submitter clinical testing

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