ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66786A>T (p.Glu22262Asp)

gnomAD frequency: 0.00001  dbSNP: rs1022562370
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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 RCV000534981 SCV000643552 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691882 SCV005188126 uncertain significance not provided criteria provided, single submitter not provided

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