ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76661C>G (p.Ala25554Gly)

gnomAD frequency: 0.00004  dbSNP: rs879087699
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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 RCV000643316 SCV000765003 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-08 criteria provided, single submitter clinical testing
New York Genome Center RCV004799228 SCV001468748 uncertain significance Dilated cardiomyopathy 1G; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2019-07-12 criteria provided, single submitter clinical testing

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