ClinVar Miner

Submissions for variant NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile)

gnomAD frequency: 0.74406  dbSNP: rs1062087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711206 SCV001939738 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118589 SCV000152995 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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