ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2520C>T (p.Leu840=)

dbSNP: rs537796918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704422 SCV000529661 likely benign not provided 2019-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000903290 SCV001047749 benign Hyperphosphatasia with intellectual disability syndrome 2 2024-06-04 criteria provided, single submitter clinical testing

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