Submissions for variant NM_014028.4(OSTM1):c.207G>T (p.Gly69=)

gnomAD frequency: 0.03550  dbSNP: rs80219951

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000363284	SCV000336176	benign	not specified	2015-10-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000281983	SCV000459548	benign	Autosomal recessive osteopetrosis 5	2018-01-12	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	RCV001515244	SCV001723277	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001515244	SCV001935943	benign	not provided	2021-06-10	criteria provided, single submitter	clinical testing