ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.711C>G (p.Ser237Arg)

gnomAD frequency: 0.00824  dbSNP: rs78925077
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116698 SCV000313631 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000539600 SCV000634138 benign Familial infantile myasthenia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001618269 SCV001843361 benign not provided 2019-05-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001618269 SCV004125348 benign not provided 2022-09-01 criteria provided, single submitter clinical testing CHAT: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001618269 SCV005319431 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116698 SCV000150667 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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