ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.951T>C (p.Phe317=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005225804 SCV005861848 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-22 criteria provided, single submitter clinical testing

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