ClinVar Miner

Submissions for variant NM_014832.5(TBC1D4):c.2384-3C>T

gnomAD frequency: 0.31705  dbSNP: rs2297203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719877 SCV001949463 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001719877 SCV005232633 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118588 SCV000152994 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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