ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr)

gnomAD frequency: 0.00077  dbSNP: rs200112795
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000871308 SCV000416851 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000871308 SCV001012936 benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278771 SCV003960970 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.16316T>C (p.I5439T) alteration is located in exon 117 (coding exon 115) of the NEB gene. This alteration results from a T to C substitution at nucleotide position 16316, causing the isoleucine (I) at amino acid position 5439 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000871308 SCV002084064 likely benign Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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