ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2790T>C (p.Asn930=)

gnomAD frequency: 0.00003  dbSNP: rs1057521262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424912 SCV000521931 likely benign not specified 2015-12-11 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 RCV000863158 SCV001003764 likely benign not provided 2024-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000424912 SCV002755218 likely benign not specified 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002506034 SCV002801197 likely benign Medulloblastoma; Familial dysautonomia 2022-04-27 criteria provided, single submitter clinical testing

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