ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.37433C>T (p.Pro12478Leu)

gnomAD frequency: 0.00001  dbSNP: rs1302865780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593624 SCV001816717 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing
New York Genome Center RCV002227528 SCV002506931 uncertain significance Hypertrophic cardiomyopathy 9 2021-04-16 criteria provided, single submitter clinical testing

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