ClinVar Miner

Submissions for variant NM_022912.2(REEP1):c.106delG

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV002280067 SCV002568822 pathogenic not provided criteria provided, single submitter clinical testing
OMIM RCV002280597 SCV002568865 pathogenic Hereditary spastic paraplegia 31 2022-08-30 no assertion criteria provided literature only

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