ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2886G>A (p.Leu962=)

gnomAD frequency: 0.04331  dbSNP: rs3027883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117214 SCV000520683 benign not specified 2015-12-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001513391 SCV001721005 benign Methylmalonic acidemia with homocystinuria, type cblX 2021-11-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117214 SCV000151379 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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