Submissions for variant NM_002615.7(SERPINF1):c.643+8C>T

dbSNP: rs149399910

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000308317	SCV000400891	likely benign	Osteogenesis imperfecta type 6	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	RCV000966452	SCV001113776	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000966452	SCV001784357	likely benign	not provided	2019-07-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278255	SCV002565015	likely benign	Osteogenesis imperfecta	2021-08-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000966452	SCV002822347	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	SERPINF1: BP4, BS1, BS2
Clinical Genetics, Erasmus University Medical Center	RCV000508666	SCV000328916	uncertain significance	Hirschsprung disease, susceptibility to, 1	2016-11-18	no assertion criteria provided	clinical testing