ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)

gnomAD frequency: 0.00009  dbSNP: rs752620885
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000713985 SCV000534839 likely benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088499 SCV000555147 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000713985 SCV000701504 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713985 SCV000844641 likely benign not provided 2018-01-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170081 SCV001332620 likely benign Cardiomyopathy 2019-03-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824766 SCV002074513 likely benign not specified 2022-01-31 criteria provided, single submitter clinical testing

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