ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.434C>A (p.Ala145Glu)

dbSNP: rs372046855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001256190 SCV001432996 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-02-11 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814295 SCV001755139 likely pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing

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