ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2188C>G (p.Pro730Ala)

gnomAD frequency: 0.00013  dbSNP: rs747418653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315450 SCV001506025 likely benign Hyperphosphatasia with intellectual disability syndrome 2 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001546941 SCV001766547 uncertain significance not provided 2024-08-08 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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