ClinVar Miner

Submissions for variant NM_015160.3(PMPCA):c.1200+33G>A

gnomAD frequency: 0.21146  dbSNP: rs4604565
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722685 SCV001949377 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789553 SCV002031505 benign Autosomal recessive spinocerebellar ataxia 2 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001722685 SCV005323668 benign not provided criteria provided, single submitter not provided

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