ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)

dbSNP: rs368433666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000721140 SCV001135231 likely pathogenic Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000721140 SCV000852023 pathogenic Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2018-11-08 no assertion criteria provided literature only

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