ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.636T>C (p.Pro212=)

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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 RCV005226532 SCV005864690 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-01-13 criteria provided, single submitter clinical testing

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