ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77540C>T (p.Thr25847Ile)

gnomAD frequency: 0.00003  dbSNP: rs917984063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549921 SCV000643699 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-26 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003139827 SCV003807750 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-10-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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