ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)

gnomAD frequency: 0.00108  dbSNP: rs370336923
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724607 SCV000225554 uncertain significance not provided 2015-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000253154 SCV000306463 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001078872 SCV001000772 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000724607 SCV001781680 likely benign not provided 2018-10-24 criteria provided, single submitter clinical testing

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