ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.333T>C (p.Asp111=)

dbSNP: rs534113568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504375 SCV000597429 uncertain significance not specified 2016-01-06 criteria provided, single submitter clinical testing
Invitae RCV002056883 SCV002440979 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-07-09 criteria provided, single submitter clinical testing

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