ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.1764C>T (p.Val588=)

gnomAD frequency: 0.00071  dbSNP: rs137856303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442217 SCV000528419 likely benign not provided 2019-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000951794 SCV001098230 likely benign Orofacial-digital syndrome IV; Joubert syndrome 18 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000442217 SCV004127151 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing TCTN3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004533070 SCV004725940 likely benign TCTN3-related disorder 2019-08-28 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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