ClinVar Miner

Submissions for variant NM_018052.5(VAC14):c.811+43G>A

gnomAD frequency: 0.85073  dbSNP: rs1875941
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001669508 SCV001887396 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243383 SCV002514413 benign Striatonigral degeneration, childhood-onset 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001669508 SCV005248096 benign not provided criteria provided, single submitter not provided

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