ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln)

gnomAD frequency: 0.00006  dbSNP: rs794729458
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704909 SCV000237301 uncertain significance not provided 2019-06-13 criteria provided, single submitter clinical testing
Invitae RCV000546015 SCV000643361 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170603 SCV001333192 uncertain significance Cardiomyopathy 2019-04-05 criteria provided, single submitter clinical testing
New York Genome Center RCV001704909 SCV002764555 uncertain significance not provided 2020-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503729 SCV002815967 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-07-21 criteria provided, single submitter clinical testing

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