ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.862+51G>A

gnomAD frequency: 0.17994  dbSNP: rs2275376
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533563 SCV001750225 benign Infantile hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533564 SCV001750226 benign Childhood hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533565 SCV001750227 benign Adult hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001724348 SCV001949621 benign not provided 2018-08-20 criteria provided, single submitter clinical testing

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