ClinVar Miner

Submissions for variant NM_004170.6(SLC1A1):c.1181TCA[1] (p.Ile395del)

dbSNP: rs587777697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005042281 SCV005679287 likely pathogenic Dicarboxylic aminoaciduria; Schizophrenia 18 2024-05-03 criteria provided, single submitter clinical testing
OMIM RCV000143977 SCV000188862 pathogenic Dicarboxylic aminoaciduria 2011-01-01 no assertion criteria provided literature only

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