ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.224C>G (p.Ser75Cys)

gnomAD frequency: 0.00210  dbSNP: rs74438152
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000882111 SCV001025332 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000882111 SCV004170895 uncertain significance not provided 2023-04-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30755224)
Breakthrough Genomics, Breakthrough Genomics RCV000882111 SCV005215287 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004530911 SCV004732026 benign ELP2-related disorder 2019-03-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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