ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter)

gnomAD frequency: 0.00780  dbSNP: rs62624965
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145186 SCV000192235 benign not specified 2014-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972375 SCV001120081 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001096476 SCV001252692 benign Microcephaly 5, primary, autosomal recessive 2017-04-28 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV001096476 SCV002794631 likely benign Microcephaly 5, primary, autosomal recessive 2021-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000972375 SCV004125185 benign not provided 2023-05-01 criteria provided, single submitter clinical testing ASPM: BS1, BS2
Genome-Nilou Lab RCV001096476 SCV004177601 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972375 SCV005287458 benign not provided criteria provided, single submitter not provided

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