ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44017C>G (p.Arg14673Gly)

gnomAD frequency: 0.00001  dbSNP: rs773004022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000326636 SCV000335946 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643299 SCV000764986 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-01 criteria provided, single submitter clinical testing

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