ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.290+7G>A

gnomAD frequency: 0.00042  dbSNP: rs375788140
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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 RCV000460147 SCV000563312 likely benign RASopathy 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000601392 SCV000727604 likely benign not specified 2018-02-19 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.
CeGaT Center for Human Genetics Tuebingen RCV003409649 SCV004124247 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing NRAS: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003925393 SCV004739993 likely benign NRAS-related disorder 2019-10-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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