ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9808-2A>G

dbSNP: rs1602456486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249871 SCV002519500 pathogenic Becker muscular dystrophy 2022-05-04 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252779 SCV002523797 likely pathogenic See cases 2020-09-18 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2

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