ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.72T>C (p.Ser24=) (rs73777558)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116284 SCV000230366 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000116284 SCV000532424 likely benign not specified 2018-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000116284 SCV000150202 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.
Invitae RCV000525990 SCV000634575 benign Joubert syndrome 2017-07-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116284 SCV000312900 likely benign not specified criteria provided, single submitter clinical testing

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