Submissions for variant NM_005708.5(GPC6):c.1234G>A (p.Val412Met)

gnomAD frequency: 0.17631  dbSNP: rs1535692

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000989154	SCV000384901	benign	Autosomal recessive omodysplasia	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.
Mendelics	RCV000989154	SCV001139370	benign	Autosomal recessive omodysplasia	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513967	SCV001721683	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001513967	SCV001907995	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000989154	SCV001933905	benign	Autosomal recessive omodysplasia	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001513967	SCV005233167	benign	not provided		criteria provided, single submitter	not provided