ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.11-45T>C

gnomAD frequency: 0.00339  dbSNP: rs146965488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242574 SCV000312858 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000835430 SCV000977221 likely benign not provided 2018-06-16 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.

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