ClinVar Miner

Submissions for variant NM_006279.5(ST3GAL3):c.398-7T>C

gnomAD frequency: 0.01051  dbSNP: rs114112844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118419 SCV000316585 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000459711 SCV000559614 benign Early infantile epileptic encephalopathy with suppression bursts 2025-02-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118419 SCV000152824 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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