ClinVar Miner

Submissions for variant NM_000411.8(HLCS):c.1672G>A (p.Glu558Lys) (rs149736764)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185945 SCV000238902 benign not specified 2018-03-05 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000185945 SCV000539302 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Gene assocaited with multiple carboxylase deficiency/ holocarboxylase synthetase deficiency - Affected infants often have difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy).2 homo Europeans. Frequency of this variant is too high for the disorder ( estimated to affect 1 in 87,000 people)
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625204 SCV000744130 likely benign Holocarboxylase synthetase deficiency 2016-05-02 criteria provided, single submitter clinical testing
Invitae RCV000859391 SCV000756242 benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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