ClinVar Miner

Submissions for variant NC_000007.14:g.26544156_26548212del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV003989466 SCV004808341 likely pathogenic Autosomal recessive osteopetrosis 8 2023-03-28 no assertion criteria provided clinical testing

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