ClinVar Miner

Submissions for variant NM_198060.4(NRAP):c.3064A>G (p.Met1022Val)

gnomAD frequency: 0.00876  dbSNP: rs34523503
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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 RCV000889063 SCV001032723 benign not provided 2018-12-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000889063 SCV005317313 benign not provided criteria provided, single submitter not provided
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405393 SCV006068336 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910539 SCV004725753 benign NRAP-related disorder 2019-02-20 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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