ClinVar Miner

Submissions for variant NM_001199563.2(BVES):c.807A>T (p.Leu269Phe)

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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 RCV003143837 SCV003830204 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2X 2019-11-06 criteria provided, single submitter clinical testing

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