ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.248del (p.Gly83fs)

dbSNP: rs2104244539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Applied Genomics, Kongju National University RCV001526840 SCV001737512 likely pathogenic Neuronopathy, distal hereditary motor, type 5B 2020-11-01 criteria provided, single submitter clinical testing Recessive condition
OMIM RCV002280585 SCV002568866 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 6 2023-10-17 no assertion criteria provided literature only

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