ClinVar Miner

Submissions for variant NM_018052.5(VAC14):c.1662-47C>G

gnomAD frequency: 0.62185  dbSNP: rs9673700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001687788 SCV001910223 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243413 SCV002514410 benign Striatonigral degeneration, childhood-onset 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001687788 SCV005247534 benign not provided criteria provided, single submitter not provided

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