ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly) (rs137854524)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082843 SCV000225957 pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762831 SCV000893190 pathogenic Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000002246 SCV000022404 pathogenic Limb-girdle muscular dystrophy, type 2L 2010-02-12 no assertion criteria provided literature only
GeneReviews RCV000002246 SCV000056222 pathologic Limb-girdle muscular dystrophy, type 2L 2012-11-29 no assertion criteria provided curation Converted during submission to Pathogenic.
ANO5 @LOVD RCV000082843 SCV000172408 not provided not provided no assertion provided not provided

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