ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58105A>G (p.Lys19369Glu)

gnomAD frequency: 0.00001  dbSNP: rs759447234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273234 SCV000336363 uncertain significance not provided 2015-10-06 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003137886 SCV003807961 uncertain significance Dilated cardiomyopathy 1G 2022-06-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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