ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65802_65803del (p.Thr21935fs)

dbSNP: rs2154178644
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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 RCV004545892 SCV004183363 likely pathogenic TTN-related disorder 2021-11-16 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2

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