ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66105A>T (p.Lys22035Asn)

gnomAD frequency: 0.00006  dbSNP: rs373681189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598416 SCV000701323 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV000643463 SCV000765150 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486887 SCV004240067 likely benign Cardiomyopathy 2022-09-30 criteria provided, single submitter clinical testing

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