ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.7140C>T (p.His2380=)

gnomAD frequency: 0.01444  dbSNP: rs3802696
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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 RCV001521159 SCV001730443 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521159 SCV005322800 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116338 SCV000150259 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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