ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64933C>T (p.Pro21645Ser)

gnomAD frequency: 0.00001  dbSNP: rs1553632774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542932 SCV000643521 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000592195 SCV000704564 uncertain significance not provided 2017-01-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000592195 SCV003820186 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing

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