ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2410A>G (p.Met804Val)

dbSNP: rs1587162458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999155 SCV001155633 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003988857 SCV004805614 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2024-03-25 criteria provided, single submitter research

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