ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29944G>A (p.Ala9982Thr)

gnomAD frequency: 0.00006  dbSNP: rs200745162
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000512661 SCV000345016 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512661 SCV000609004 uncertain significance not provided 2017-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643447 SCV000765134 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000512661 SCV003819588 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing

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