ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.84C>G (p.Pro28=)

gnomAD frequency: 0.00194  dbSNP: rs141718695
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173607 SCV000224731 benign not specified 2014-12-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280438 SCV000384130 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 RCV000864726 SCV001005571 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000864726 SCV002545130 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing FREM2: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002500457 SCV002812030 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2021-10-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000864726 SCV001932717 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000864726 SCV001970821 likely benign not provided no assertion criteria provided clinical testing

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