ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.756G>A (p.Thr252=)

gnomAD frequency: 0.00280  dbSNP: rs117266082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000953280 SCV001099843 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000953280 SCV001500913 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ANK3: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV000116340 SCV000150261 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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