ClinVar Miner

Submissions for variant NM_020314.7(VPS35L):c.1554G>A (p.Thr518=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003456922 SCV004184544 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing VPS35L: PP3, BS2
Molecular Genetics, Royal Melbourne Hospital RCV003994562 SCV004812475 likely benign Ritscher-Schinzel syndrome 2023-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003919243 SCV004744733 likely benign VPS35L-related disorder 2023-01-19 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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