Submissions for variant NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro)

gnomAD frequency: 0.00001  dbSNP: rs200220260

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150403	SCV000197580	benign	not specified	2016-04-22	criteria provided, single submitter	clinical testing	proposed classification - variant undergoing re-assessment, contact laboratory
Illumina Laboratory Services, Illumina	RCV000333747	SCV000453366	benign	Autosomal dominant nonsyndromic hearing loss 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.
Invitae	RCV000557145	SCV000655957	benign	Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001753531	SCV001986078	benign	not provided	2021-08-03	criteria provided, single submitter	clinical testing