Submissions for variant NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe)

gnomAD frequency: 0.00046  dbSNP: rs140559544

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001097818	SCV001254134	likely benign	Age related macular degeneration 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002069650	SCV002406715	benign	not provided	2024-12-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001097818	SCV004179789	likely benign	Age related macular degeneration 1	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002069650	SCV005074574	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	HMCN1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV002069650	SCV005260444	likely benign	not provided		criteria provided, single submitter	not provided