ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.468C>T (p.Asn156=)

gnomAD frequency: 0.00004  dbSNP: rs771396774
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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 RCV002107129 SCV002326545 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543691 SCV004781024 likely benign TCTN2-related disorder 2022-08-01 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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