ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71249C>T (p.Pro23750Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003447862 SCV004175764 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2023-03-01 criteria provided, single submitter clinical testing

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