ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.71A>G (p.Glu24Gly) (rs104894551)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002732 SCV000022890 pathogenic Spongy degeneration of central nervous system 2002-11-01 no assertion criteria provided literature only

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