ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=)

gnomAD frequency: 0.00320  dbSNP: rs113568956
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000398993 SCV000332215 likely benign not specified 2015-06-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000398993 SCV000597097 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
Invitae RCV000971148 SCV001118770 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000971148 SCV001814595 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21344632)
CeGaT Center for Human Genetics Tuebingen RCV000971148 SCV004164023 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SLC34A3: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003600373 SCV004563916 likely benign Autosomal recessive hypophosphatemic bone disease 2023-03-16 criteria provided, single submitter clinical testing

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