ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.793-31C>T

gnomAD frequency: 0.13784  dbSNP: rs1256328
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251589 SCV000304439 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533557 SCV001750219 benign Infantile hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533558 SCV001750220 benign Childhood hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533559 SCV001750221 benign Adult hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001610575 SCV001839803 benign not provided 2018-08-19 criteria provided, single submitter clinical testing

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