ClinVar Miner

Submissions for variant NM_001346754.2(PIGW):c.460A>G (p.Arg154Gly)

gnomAD frequency: 0.00002  dbSNP: rs1256773607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268066 SCV001446692 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000585892 SCV000693843 pathogenic Hyperphosphatasia with intellectual disability syndrome 5 2018-03-09 no assertion criteria provided literature only

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