ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.1228-16C>T

gnomAD frequency: 0.00106  dbSNP: rs186815044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243824 SCV000309020 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058118 SCV002323942 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487126 SCV002800974 likely benign Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2021-11-11 criteria provided, single submitter clinical testing

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