ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.473-12C>T

gnomAD frequency: 0.00137  dbSNP: rs147181132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551380 SCV001771873 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001551380 SCV002410561 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506656 SCV002805096 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001551380 SCV005258909 likely benign not provided criteria provided, single submitter not provided

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