ClinVar Miner

Submissions for variant NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)

dbSNP: rs144962740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003434454 SCV004163116 benign not provided 2022-05-01 criteria provided, single submitter clinical testing ATXN1: BS1, BS2
Mendelics RCV003485770 SCV004232610 benign Spinocerebellar ataxia type 1 2024-01-23 criteria provided, single submitter clinical testing
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV002225250 SCV002503898 likely pathogenic Tip-toe gait no assertion criteria provided clinical testing

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