ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2832C>T (p.Ser944=)

gnomAD frequency: 0.00714  dbSNP: rs114076205
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153552 SCV000203082 benign not specified 2014-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153552 SCV000307337 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000552555 SCV000417026 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 RCV000153552 SCV000522873 benign not specified 2016-02-18 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 RCV000552555 SCV000640766 benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000552555 SCV001737332 benign Nemaline myopathy 2 2021-06-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262757 SCV002544084 benign not provided 2024-07-01 criteria provided, single submitter clinical testing NEB: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002262757 SCV005256338 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000552555 SCV001452180 likely benign Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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