Submissions for variant NM_152722.5(HEPACAM):c.288A>C (p.Arg96=)

gnomAD frequency: 0.00382  dbSNP: rs36089266

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000397096	SCV000368552	benign	Megalencephalic leukoencephalopathy with subcortical cysts	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	RCV000957028	SCV001103821	benign	not provided	2024-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000957028	SCV001982239	likely benign	not provided	2020-12-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000957028	SCV005075247	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	HEPACAM: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000957028	SCV005215429	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003940147	SCV004751390	benign	HEPACAM-related disorder	2024-06-03	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).