ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2962-16A>G

gnomAD frequency: 0.00707  dbSNP: rs41287056
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241756 SCV000312881 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000241756 SCV000728872 benign not specified 2017-02-02 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.
Invitae RCV001515847 SCV001724006 benign Familial aplasia of the vermis 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221888 SCV003917096 benign not provided 2023-05-01 criteria provided, single submitter clinical testing AHI1: BS1, BS2

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