ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.1330C>T (p.Leu444Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003325630 SCV004031433 likely benign Lowe syndrome 2023-09-05 criteria provided, single submitter clinical testing

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