ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40352C>A (p.Pro13451His)

gnomAD frequency: 0.00017  dbSNP: rs370048456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184496 SCV000237140 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000229755 SCV000286642 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000184496 SCV003827400 uncertain significance not provided 2020-03-02 criteria provided, single submitter clinical testing

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