ClinVar Miner

Submissions for variant NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu)

gnomAD frequency: 0.00420  dbSNP: rs145980033
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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 RCV000661906 SCV000784227 uncertain significance Autosomal recessive spinocerebellar ataxia 15 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000961502 SCV001108549 benign not provided 2018-09-19 criteria provided, single submitter clinical testing

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