ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu)

dbSNP: rs201376188
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Total submissions: 1
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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 RCV000784991 SCV000923539 uncertain significance Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 2019-01-01 criteria provided, single submitter clinical testing

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