ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.859T>C (p.Leu287=)

gnomAD frequency: 0.00141  dbSNP: rs141742288
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914455 SCV001059631 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000914455 SCV001473873 benign not provided 2021-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000914455 SCV001820432 likely benign not provided 2021-03-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279633 SCV002564861 likely benign Osteogenesis imperfecta 2021-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502757 SCV002808418 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-07-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000914455 SCV005258932 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001277096 SCV001463898 benign Hypophosphatasia 2020-05-01 no assertion criteria provided clinical testing

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