ClinVar Miner

Submissions for variant NM_000157.4(GBA):c.415G>C (p.Ala139Pro) (rs878853314)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000225581 SCV000282505 likely pathogenic Gaucher's disease, type 1 2013-12-17 no assertion criteria provided research Variant c.415G>C/p.A139P (ENST00000368373) was found to be pathogenic by online software like Mutation Taster and Polyphen-2.

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