ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.292-22T>C

gnomAD frequency: 0.05386  dbSNP: rs12206001
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543739 SCV001762578 benign Salla disease 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543740 SCV001762579 benign Sialic acid storage disease, severe infantile type 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000675827 SCV001857718 benign not provided 2019-03-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675827 SCV000801549 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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