ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.550G>A (p.Asp184Asn) (rs41269549)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725205 SCV000334959 uncertain significance not provided 2016-11-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334802 SCV000450149 likely benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391771 SCV000450150 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000725205 SCV000617141 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing The D184N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D184N variant is observed in 227/66612 (0.34%) alleles from individuals of European background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). D184N is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000725205 SCV001097951 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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