ClinVar Miner

Submissions for variant NM_000157.4(GBA):c.160G>T (p.Val54Leu) (rs121908302)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004556 SCV000024730 pathogenic Gaucher's disease, type 1 1996-01-01 no assertion criteria provided literature only
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000004556 SCV000864172 pathogenic Gaucher's disease, type 1 2018-09-11 no assertion criteria provided clinical testing The variant NM_000157.4: c.160G>T(p.V54L) in exon-3 of GBA gene has been seen in compound heterozygous status with another known variant NM_000157.4: c.1448T>C(p.L444P) in exon-10 of GBA gene. Both the variants are known pathogenic.

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