ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.726C>T (p.Pro242=) (rs2230182)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125361 SCV000168812 benign not specified 2014-04-02 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 RCV000536373 SCV000631925 benign Holocarboxylase synthetase deficiency 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000536373 SCV001304155 benign Holocarboxylase synthetase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Natera, Inc. RCV000536373 SCV001461056 benign Holocarboxylase synthetase deficiency 2020-09-16 no assertion criteria provided clinical testing

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