ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67153C>T (p.Pro22385Ser)

gnomAD frequency: 0.00001  dbSNP: rs781562260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003137730 SCV000237452 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function
Invitae RCV000643748 SCV000765435 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137730 SCV003819564 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing

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