ClinVar Miner

Submissions for variant NM_000132.3(F8):c.244A>G (p.Lys82Glu) (rs1283070296)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757248 SCV000885398 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing The F8 c.244A>G; p.Lys82Glu variant is not described in the medical literature or in gene-specific databases. The variant is not listed in the ClinVar database, in the dbSNP variant database, or in the general population-based databases (Exome Variant Server, Genome Aggregation Database). The lysine at this position is conserved across species and computational algorithms (PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, there is insufficient evidence to classify this variant with certainty.

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