ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser)

gnomAD frequency: 0.03328  dbSNP: rs2230795
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254080 SCV000309752 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000407382 SCV000476556 benign Familial dysautonomia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000254080 SCV000513273 benign not specified 2015-04-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000857492 SCV000563266 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000254080 SCV002548281 likely benign not specified 2022-05-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000857492 SCV005268140 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000407382 SCV001452829 benign Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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