ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.612C>T (p.Ile204=)

gnomAD frequency: 0.00067  dbSNP: rs141448778
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000398912 SCV000343433 uncertain significance not provided 2016-06-26 criteria provided, single submitter clinical testing
Invitae RCV000398912 SCV001052273 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098040 SCV001254377 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 RCV000398912 SCV001771033 likely benign not provided 2021-05-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001660555 SCV001880037 likely benign not specified 2021-02-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000398912 SCV001961084 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000398912 SCV004564768 likely benign not provided 2023-09-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001098040 SCV001463896 uncertain significance Hypophosphatasia 2019-10-28 no assertion criteria provided clinical testing

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