ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32C>T (p.Pro11Leu)

gnomAD frequency: 0.00003  dbSNP: rs768624416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642972 SCV000764659 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508122 SCV001714063 uncertain significance not provided 2021-04-05 criteria provided, single submitter clinical testing

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