ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1505+3G>C

gnomAD frequency: 0.00377  dbSNP: rs111574617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198047 SCV000253608 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001711354 SCV000516896 benign not provided 2018-04-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003150974 SCV003840104 benign not specified 2022-08-15 no assertion criteria provided clinical testing

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