ClinVar Miner

Submissions for variant NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) (rs151344513)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000031941 SCV000044670 pathogenic Spinocerebellar ataxia type 28 2010-10-01 no assertion criteria provided literature only
GeneReviews RCV000031941 SCV000054609 pathologic Spinocerebellar ataxia type 28 2011-05-17 no assertion criteria provided curation Converted during submission to Pathogenic.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000031941 SCV001190266 likely pathogenic Spinocerebellar ataxia type 28 2019-06-11 no assertion criteria provided clinical testing

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