ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.957C>T (p.His319=)

dbSNP: rs758153898
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV000851253 SCV000993508 likely pathogenic Pontocerebellar hypoplasia type 7 2017-07-16 no assertion criteria provided research

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