ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2648-16A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003647089 SCV004538052 likely benign Hyperphosphatasia with intellectual disability syndrome 2 2023-11-24 criteria provided, single submitter clinical testing

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