ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1189+19G>T

gnomAD frequency: 0.02227  dbSNP: rs61778393
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250665 SCV000304430 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000671597 SCV000796585 likely benign Infantile hypophosphatasia 2017-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513493 SCV001721120 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001513493 SCV001773516 likely benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513493 SCV005258976 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000250665 SCV001807949 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000250665 SCV001969131 benign not specified no assertion criteria provided clinical testing

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