ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.892dup (p.Ser298fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003447464 SCV004174848 pathogenic Autosomal recessive osteopetrosis 4 criteria provided, single submitter clinical testing

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