ClinVar Miner

Submissions for variant NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His)

gnomAD frequency: 0.00114  dbSNP: rs144717803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000364091 SCV000343163 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825185 SCV000966459 likely benign not specified 2018-04-18 criteria provided, single submitter clinical testing p.Leu130His in exon 2 of MARVELD2: This variant is not expected to have clinical significance because it has been identified in 0.4% (86/24016) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs144717803) and due to a lack of conservation across species, includ ing mammals. ACMG/AMP criteria applied: BS1; BP4.
GeneDx RCV000364091 SCV000983804 likely benign not provided 2018-04-19 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.
Invitae RCV000364091 SCV004270647 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing

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