ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.669G>A (p.Thr223=)

gnomAD frequency: 0.00008  dbSNP: rs199981419
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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 RCV001499618 SCV001704382 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540453 SCV004780078 likely benign TCTN2-related disorder 2019-03-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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