ClinVar Miner

Submissions for variant NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln)

gnomAD frequency: 0.00011  dbSNP: rs758146224
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328860 SCV001520083 uncertain significance Autosomal recessive spinocerebellar ataxia 2 2019-11-20 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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