ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.389-20C>T

gnomAD frequency: 0.19698  dbSNP: rs3812036
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518128 SCV001726775 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001518128 SCV001882831 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810056 SCV002056351 benign Fanconi renotubular syndrome 2 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810057 SCV002056362 benign Hypercalcemia, infantile, 2 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810055 SCV002056373 benign Hypophosphatemic nephrolithiasis/osteoporosis 1 2021-07-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528874 SCV001741337 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528874 SCV001959243 benign not specified no assertion criteria provided clinical testing

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