ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.468C>T (p.Asp156=)

gnomAD frequency: 0.00052  dbSNP: rs143621566
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000910579 SCV001055450 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098039 SCV001254376 likely benign Hypophosphatasia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000910579 SCV001812368 likely benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818826 SCV002069468 likely benign not specified 2018-08-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495498 SCV002796007 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-10-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000910579 SCV004565115 likely benign not provided 2023-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001818826 SCV005185413 likely benign not specified 2024-05-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001098039 SCV001466789 likely benign Hypophosphatasia 2020-09-02 no assertion criteria provided clinical testing

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