ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.575dup (p.Leu193fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005045845 SCV005672837 likely pathogenic Sialic acid storage disease, severe infantile type; Salla disease 2024-04-09 criteria provided, single submitter clinical testing

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