ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.2124T>C (p.Asp708=)

gnomAD frequency: 0.02906  dbSNP: rs34552044
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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 RCV001517709 SCV001726271 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001517709 SCV002004913 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517709 SCV005228050 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116329 SCV000150250 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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