ClinVar Miner

Submissions for variant NM_006796.2(AFG3L2):c.1951A>G (p.Arg651Gly) (rs764254189)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000415684 SCV000282231 likely pathogenic Spastic ataxia 5, autosomal recessive 2016-01-01 no assertion criteria provided clinical testing Variant c.1951A>G(p.R651G) was found to be pathogenic by Polyphen2 and SIFT software.

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