ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66576C>A (p.Leu22192=)

dbSNP: rs187378247
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465235 SCV000555006 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-02 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000598212 SCV000701160 likely benign not specified 2016-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000598212 SCV000721645 likely benign not specified 2017-07-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000598212 SCV001476358 benign not specified 2020-06-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840579 SCV002100381 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840580 SCV002100382 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840581 SCV002100383 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840578 SCV002100384 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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