ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1713G>A (p.Ser571=)

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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 RCV003780402 SCV004567967 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005013179 SCV005634146 uncertain significance Meckel syndrome, type 8; Joubert syndrome 24 2024-02-01 criteria provided, single submitter clinical testing

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