ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)

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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 RCV003333296 SCV004040691 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333298 SCV004040698 likely pathogenic Early-onset myopathy with fatal cardiomyopathy 2023-05-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333295 SCV004040866 likely pathogenic Tibial muscular dystrophy 2023-05-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333297 SCV004040897 likely pathogenic Myopathy, myofibrillar, 9, with early respiratory failure 2023-05-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333294 SCV004041052 likely pathogenic Dilated cardiomyopathy 1G 2023-05-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333293 SCV004041119 likely pathogenic Hypertrophic cardiomyopathy 9 2023-05-30 criteria provided, single submitter clinical testing

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