ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.215A>C (p.Asp72Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002307849 SCV002511377 likely pathogenic Muscular dystrophy, limb-girdle, autosomal recessive 23 2022-05-14 criteria provided, single submitter clinical testing

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