ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73021T>G (p.Ser24341Ala)

gnomAD frequency: 0.00001  dbSNP: rs1397935154
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536549 SCV000643635 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-09 criteria provided, single submitter clinical testing

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