ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.8895T>C (p.Ala2965=)

gnomAD frequency: 0.18901  dbSNP: rs10740006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522178 SCV001731665 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554080 SCV001775241 benign Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522178 SCV005322795 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116344 SCV000150265 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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