ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.754G>A (p.Val252Ile)

gnomAD frequency: 0.18781  dbSNP: rs7732589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518089 SCV001726728 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001518089 SCV001829167 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118391 SCV000152791 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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