ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.342C>T (p.Ala114=)

gnomAD frequency: 0.00005  dbSNP: rs765698306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193951 SCV000248045 uncertain significance not specified 2015-05-28 criteria provided, single submitter clinical testing
Invitae RCV000897854 SCV001042023 likely benign not provided 2023-11-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000897854 SCV004166105 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing MID1: BP4, BP7, BS2

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