ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.11685C>T (p.Ser3895=)

gnomAD frequency: 0.02183  dbSNP: rs7923682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521157 SCV001730441 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116325 SCV000150246 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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