ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.582T>C (p.Pro194=)

gnomAD frequency: 0.00001  dbSNP: rs112063292
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001444060 SCV001647053 likely benign not provided 2023-10-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559283 SCV001781469 likely benign Adult hypophosphatasia 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559284 SCV001781470 likely benign Childhood hypophosphatasia 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559285 SCV001781471 likely benign Infantile hypophosphatasia 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501563 SCV002807874 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-02-08 criteria provided, single submitter clinical testing

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