ClinVar Miner

Submissions for variant NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter)

gnomAD frequency: 0.00006  dbSNP: rs752352896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV000766186 SCV002059685 pathogenic Spinocerebellar ataxia, autosomal recessive 27 2019-09-24 criteria provided, single submitter clinical testing
OMIM RCV000766186 SCV000897617 pathogenic Spinocerebellar ataxia, autosomal recessive 27 2019-03-28 no assertion criteria provided literature only

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