ClinVar Miner

Submissions for variant NM_003480.4(MFAP5):c.12G>A (p.Leu4=)

gnomAD frequency: 0.00058  dbSNP: rs148879406
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000892524 SCV000533454 uncertain significance not provided 2024-09-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868)
Labcorp Genetics (formerly Invitae), Labcorp RCV000892524 SCV001036399 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892524 SCV001148639 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing MFAP5: BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000892524 SCV001716125 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379374 SCV002691091 likely benign Cardiovascular phenotype 2020-05-04 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.
PreventionGenetics, part of Exact Sciences RCV003970227 SCV004789613 likely benign MFAP5-related disorder 2020-04-24 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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