ClinVar Miner

Submissions for variant NM_014489.4(PGAP2):c.2T>G (p.Met1Arg)

dbSNP: rs1590215915
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856772 SCV000999326 pathogenic Hyperphosphatasia with intellectual disability syndrome 3 criteria provided, single submitter clinical testing

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