ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)

gnomAD frequency: 0.00001  dbSNP: rs753491527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169870 SCV001251779 likely benign Spinocerebellar ataxia type 5 2020-05-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001169870 SCV001528666 uncertain significance Spinocerebellar ataxia type 5 2018-05-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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