ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)

gnomAD frequency: 0.00056  dbSNP: rs56019808
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118778 SCV000153338 uncertain significance not provided 2013-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000118778 SCV000237501 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Invitae RCV001088347 SCV000555255 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000412700 SCV000616137 uncertain significance not specified 2017-06-20 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000118778 SCV000857082 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing

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