ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103713T>C (p.Tyr34571=)

gnomAD frequency: 0.00001  dbSNP: rs1057523313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698250 SCV000531499 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Invitae RCV001486698 SCV001691168 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2019-06-18 criteria provided, single submitter clinical testing

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