ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA

dbSNP: rs786200964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723929 SCV000202148 uncertain significance not provided 2014-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000202423 SCV000257483 likely benign Familial aplasia of the vermis 2022-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000723929 SCV000569390 likely benign not provided 2019-03-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22334370)

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