ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) (rs143044921)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000406982 SCV000384181 likely benign Fraser syndrome 2 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.
Invitae RCV000872025 SCV001013774 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000406982 SCV001438367 benign Fraser syndrome 2 2020-09-24 criteria provided, single submitter clinical testing
Daryl Scott Lab,Baylor College of Medicine RCV000577937 SCV000484665 risk factor Congenital diaphragmatic hernia 2016-11-09 no assertion criteria provided research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000872025 SCV001799201 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000872025 SCV001926891 likely benign not provided no assertion criteria provided clinical testing

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