ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)

gnomAD frequency: 0.00199  dbSNP: rs138509553
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000290466 SCV000340551 uncertain significance not provided 2016-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000290466 SCV000968581 likely benign not provided 2019-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079934 SCV001097864 likely benign Joubert syndrome 14 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920116 SCV004736636 likely benign TMEM237-related disorder 2019-10-28 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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