ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3636C>T (p.Asp1212=)

gnomAD frequency: 0.00333  dbSNP: rs144376972
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001080995 SCV000417014 likely benign Nemaline myopathy 2 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 RCV000712393 SCV000532756 likely benign not provided 2020-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080995 SCV000640782 benign Nemaline myopathy 2 2025-01-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000420682 SCV000702989 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712393 SCV000842872 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080995 SCV001452167 likely benign Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004549751 SCV004751939 benign NEB-related disorder 2020-05-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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