ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.901C>G (p.Pro301Ala) (rs146084305)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244323 SCV000312057 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000556019 SCV000636850 benign Schimke immuno-osseous dysplasia 2020-12-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000556019 SCV000743146 benign Schimke immuno-osseous dysplasia 2016-06-22 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000556019 SCV000744169 benign Schimke immuno-osseous dysplasia 2016-07-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000556019 SCV001300665 benign Schimke immuno-osseous dysplasia 2018-01-12 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.
GeneDx RCV001528049 SCV001739210 likely benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000556019 SCV001453741 benign Schimke immuno-osseous dysplasia 2020-09-16 no assertion criteria provided clinical testing

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