ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147974 SCV003835486 likely pathogenic Hypertrophic cardiomyopathy 9 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147977 SCV003835497 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147979 SCV003835498 likely pathogenic Early-onset myopathy with fatal cardiomyopathy 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147975 SCV003835512 likely pathogenic Dilated cardiomyopathy 1G 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147978 SCV003835531 likely pathogenic Myopathy, myofibrillar, 9, with early respiratory failure 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147976 SCV003836485 likely pathogenic Tibial muscular dystrophy 2022-09-12 criteria provided, single submitter clinical testing

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