Submissions for variant NM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=)

gnomAD frequency: 0.00207  dbSNP: rs35159176

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251282	SCV000314966	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001705375	SCV000519837	likely benign	not provided	2021-04-10	criteria provided, single submitter	clinical testing
Invitae	RCV000554801	SCV000651947	benign	MEGF10-related myopathy	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000554801	SCV001313198	uncertain significance	MEGF10-related myopathy	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV001705375	SCV004159295	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	MEGF10: BP4, BP7