ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1152-7dup

dbSNP: rs773371042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608932 SCV000720349 likely benign not specified 2017-06-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063873 SCV002359153 benign Familial aplasia of the vermis 2024-01-29 criteria provided, single submitter clinical testing

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