Submissions for variant NM_000070.3(CAPN3):c.2433T>C (p.Val811=)

gnomAD frequency: 0.01154  dbSNP: rs28364543

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152927	SCV000202356	benign	not specified	2014-03-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152927	SCV000301882	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000281259	SCV000391043	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000338574	SCV000391044	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000152927	SCV000526849	benign	not specified	2016-08-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000338574	SCV000645490	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711018	SCV000841336	benign	not provided	2017-12-27	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000338574	SCV001456380	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2020-09-16	no assertion criteria provided	clinical testing