ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.297+9C>A

gnomAD frequency: 0.00001  dbSNP: rs773328385
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000979088 SCV001127026 likely benign not provided 2023-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488068 SCV002802920 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-12-15 criteria provided, single submitter clinical testing

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