ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)

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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 RCV003472766 SCV004201227 likely pathogenic Salla disease 2023-06-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036820 SCV005672824 likely pathogenic Sialic acid storage disease, severe infantile type; Salla disease 2024-04-26 criteria provided, single submitter clinical testing

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