ClinVar Miner

Submissions for variant NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr)

gnomAD frequency: 0.00202  dbSNP: rs117063344
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000891609 SCV001035433 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001159847 SCV001321590 likely benign Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Baylor Genetics RCV001159847 SCV001521755 uncertain significance Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 2020-11-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV000891609 SCV002821886 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MCM4: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000891609 SCV001740434 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000891609 SCV001965132 uncertain significance not provided no assertion criteria provided clinical testing

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