ClinVar Miner

Submissions for variant NM_198270.4(NHS):c.3138T>C (p.Ser1046=) (rs56908561)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555315 SCV000636708 benign Nance-Horan syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715645 SCV000846475 benign History of neurodevelopmental disorder 2014-11-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000117790 SCV000152051 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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