ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu)

dbSNP: rs386833996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000049973 SCV005056759 likely pathogenic Salla disease 2024-03-16 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049973 SCV000082382 probable-pathogenic Salla disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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