ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.2034C>T (p.Phe678=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002577281 SCV002932211 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003403856 SCV004136552 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing TCTN2: BP4

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