ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.136G>T (p.Val46Phe)

gnomAD frequency: 0.00001  dbSNP: rs749889837
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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 RCV001330784 SCV001522585 uncertain significance Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2020-01-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV004691417 SCV005186604 uncertain significance not provided criteria provided, single submitter not provided

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