ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.518T>G (p.Val173Gly)

gnomAD frequency: 0.00001  dbSNP: rs777030573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000477747 SCV000564197 pathogenic Pontocerebellar hypoplasia type 7 2021-05-06 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000477747 SCV000993507 likely pathogenic Pontocerebellar hypoplasia type 7 2017-07-16 no assertion criteria provided research

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