ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1407+5G>A

gnomAD frequency: 0.00001  dbSNP: rs281865464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091512 SCV001247610 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing
GeneReviews RCV000032553 SCV000056223 not provided Autosomal recessive limb-girdle muscular dystrophy type 2L no assertion provided literature only
OMIM RCV000032553 SCV000056742 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L 2012-03-20 no assertion criteria provided literature only
OMIM RCV000032968 SCV000056743 pathogenic Miyoshi muscular dystrophy 3 2012-03-20 no assertion criteria provided literature only

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