ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.526-106G>T

gnomAD frequency: 0.22477  dbSNP: rs3757111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543735 SCV001762574 benign Salla disease 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543736 SCV001762575 benign Sialic acid storage disease, severe infantile type 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001673165 SCV001889495 benign not provided 2018-09-22 criteria provided, single submitter clinical testing

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