ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=)

gnomAD frequency: 0.99194  dbSNP: rs6491088
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515675 SCV001723804 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554201 SCV001775421 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001515675 SCV001941896 benign not provided 2020-03-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515675 SCV005233892 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116459 SCV000150386 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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