ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59725A>G (p.Ile19909Val)

gnomAD frequency: 0.00003  dbSNP: rs1060500484
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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 RCV000467088 SCV000542710 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-09-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139625 SCV003822192 uncertain significance not provided 2020-12-10 criteria provided, single submitter clinical testing

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