ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36948dup (p.Ala12317fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Solve-RD Consortium RCV004767684 SCV005199999 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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