ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68904C>T (p.Ala22968=)

gnomAD frequency: 0.00001  dbSNP: rs927987931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997412 SCV001152787 uncertain significance not provided 2016-04-01 criteria provided, single submitter clinical testing
Invitae RCV002068733 SCV002401002 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-08-03 criteria provided, single submitter clinical testing

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