ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16975G>A (p.Glu5659Lys)

gnomAD frequency: 0.00001  dbSNP: rs763708860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545212 SCV000642733 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770093 SCV000901519 uncertain significance Cardiomyopathy 2016-03-09 criteria provided, single submitter clinical testing

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