ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35470+4T>C

gnomAD frequency: 0.00002  dbSNP: rs1389073196
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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 RCV000643909 SCV000765596 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-27 criteria provided, single submitter clinical testing
New York Genome Center RCV003227817 SCV003925299 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2022-08-28 criteria provided, single submitter clinical testing

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