ClinVar Miner

Submissions for variant NM_020347.4(LZTFL1):c.324A>G (p.Arg108=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005038811 SCV005660038 uncertain significance Bardet-Biedl syndrome 17 2024-02-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749100 SCV005354696 likely benign LZTFL1-related disorder 2024-03-29 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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