Submissions for variant NM_000067.3(CA2):c.562T>C (p.Leu188=)

gnomAD frequency: 0.64073  dbSNP: rs703

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242714	SCV000301789	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000386953	SCV000475133	benign	Osteopetrosis with renal tubular acidosis	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	RCV001522469	SCV001732023	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000386953	SCV001775905	benign	Osteopetrosis with renal tubular acidosis	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001522469	SCV001862072	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001522469	SCV005271366	benign	not provided		criteria provided, single submitter	not provided