ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1189+11C>T

dbSNP: rs201272867
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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 RCV002150264 SCV002411550 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480971 SCV002804183 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-04-14 criteria provided, single submitter clinical testing

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