ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.820-51C>G

gnomAD frequency: 0.16614  dbSNP: rs611580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000831305 SCV000973047 benign not provided 2018-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001543981 SCV001762899 benign Salla disease 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543982 SCV001762900 benign Sialic acid storage disease, severe infantile type 2021-07-10 criteria provided, single submitter clinical testing

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