ClinVar Miner

Submissions for variant NM_001142649.2(ANO5):c.2304_2305CA[2] (p.Gln770fs) (rs137854528)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032554 SCV000056225 pathologic Limb-girdle muscular dystrophy, type 2L 2012-11-29 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000032554 SCV000056744 pathogenic Limb-girdle muscular dystrophy, type 2L 2012-03-20 no assertion criteria provided literature only
ANO5 @LOVD RCV000128779 SCV000172421 not provided not provided no assertion provided not provided

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