ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.284G>A (p.Arg95His)

gnomAD frequency: 0.00188  dbSNP: rs145798898
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238871 SCV000297133 benign not specified 2015-09-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267209 SCV000456668 benign Hypophosphatemic nephrolithiasis/osteoporosis 1 2018-01-12 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000886573 SCV001030088 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000886573 SCV001753452 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886573 SCV004158105 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SLC34A1: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003939909 SCV004750068 likely benign SLC34A1-related condition 2023-02-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Department of Biosciences, University of Milan RCV002227462 SCV002507121 benign Neutropenia; Lymphopenia no assertion criteria provided research
Genetic Services Laboratory, University of Chicago RCV000238871 SCV003840057 likely benign not specified 2022-08-02 no assertion criteria provided clinical testing

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