Submissions for variant NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)

gnomAD frequency: 0.01397  dbSNP: rs61748814

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mayo Clinic Laboratories, Mayo Clinic	RCV000660411	SCV000782498	uncertain significance	Fraser syndrome 1	2024-03-15	criteria provided, single submitter	clinical testing	BA1, BS2, BP4
Illumina Laboratory Services, Illumina	RCV000660411	SCV001317572	benign	Fraser syndrome 1	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001572828	SCV002409097	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572828	SCV001797811	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001572828	SCV001928555	likely benign	not provided		no assertion criteria provided	clinical testing