ClinVar Miner

Submissions for variant NM_173560.4(RFX6):c.1383T>C (p.Thr461=)

gnomAD frequency: 0.23095  dbSNP: rs7764347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520535 SCV001729657 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001520535 SCV001901953 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118179 SCV000152535 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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