ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52619A>G (p.Tyr17540Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140610 SCV003807542 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-10-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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