ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63110G>A (p.Arg21037His)

gnomAD frequency: 0.00003  dbSNP: rs775651612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516390 SCV000616120 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing
Invitae RCV000643848 SCV000765535 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000516390 SCV003822950 uncertain significance not provided 2020-02-10 criteria provided, single submitter clinical testing

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