ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.1095T>C (p.His365=)

gnomAD frequency: 0.00004  dbSNP: rs767963074
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447377 SCV001650441 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-09-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003390939 SCV004131895 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing TCTN1: BP4, BP7

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