ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.838G>A (p.Val280Met)

gnomAD frequency: 0.00644  dbSNP: rs149509552
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000286531 SCV000334729 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000286531 SCV000517961 benign not specified 2016-02-03 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 RCV001083439 SCV000652529 benign Neurodegeneration with brain iron accumulation 5 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714188 SCV000844875 benign not provided 2018-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311402 SCV000846895 benign Inborn genetic diseases 2016-03-24 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV002487198 SCV002797353 likely benign Neurodegeneration with brain iron accumulation 5; Oculocutaneous albinism type 7 2021-11-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000714188 SCV005277778 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000714188 SCV001800251 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000714188 SCV001972361 likely benign not provided no assertion criteria provided clinical testing

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