ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141101 SCV003827816 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2019-05-30 criteria provided, single submitter clinical testing

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