ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)

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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 RCV003128093 SCV003804245 likely pathogenic Peroxisome biogenesis disorder 2B 2023-01-23 criteria provided, single submitter clinical testing

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