ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.491A>G (p.Tyr164Cys)

gnomAD frequency: 0.00039  dbSNP: rs139736291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330786 SCV001522587 uncertain significance Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2019-10-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001330786 SCV003820487 uncertain significance Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2022-11-01 criteria provided, single submitter clinical testing

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