ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.5113_5125dup (p.Val1709fs)

dbSNP: rs876657855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214037 SCV000271929 uncertain significance not specified 2017-01-12 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Labcorp Genetics (formerly Invitae), Labcorp RCV003765392 SCV004659682 likely benign not provided 2023-05-13 criteria provided, single submitter clinical testing

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