ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)

dbSNP: rs151344512
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005808 SCV000025990 pathogenic Spinocerebellar ataxia type 28 2010-04-01 no assertion criteria provided literature only
GeneReviews RCV000005808 SCV000054608 not provided Spinocerebellar ataxia type 28 no assertion provided literature only

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