ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.940-9T>C

gnomAD frequency: 0.00002  dbSNP: rs1056263001
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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 RCV001403445 SCV001605315 likely benign Hyperphosphatasia with intellectual disability syndrome 2 2023-02-08 criteria provided, single submitter clinical testing

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