ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3488del (p.Thr1163fs)

dbSNP: rs1566067386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre RCV000761393 SCV000891127 pathogenic Mucolipidosis type II 2019-01-02 criteria provided, single submitter clinical testing

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