ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.6702A>G (p.Gln2234=)

gnomAD frequency: 0.00036  dbSNP: rs142587742
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710642 SCV000533316 likely benign not provided 2020-01-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000437446 SCV000593441 uncertain significance not specified 2015-09-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710642 SCV000840889 uncertain significance not provided 2018-04-10 criteria provided, single submitter clinical testing
Invitae RCV000710642 SCV001083929 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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