ClinVar Miner

Submissions for variant NM_001199563.2(BVES):c.937A>G (p.Thr313Ala)

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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 RCV003492937 SCV004234893 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2X 2023-06-27 criteria provided, single submitter clinical testing

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