ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)

gnomAD frequency: 0.00137  dbSNP: rs201141958
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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) RCV000724568 SCV000229716 uncertain significance not provided 2015-02-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000525010 SCV000417015 uncertain significance 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, 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.
GeneDx RCV000724568 SCV000525321 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000724568 SCV000614177 uncertain significance not provided 2024-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525010 SCV000640781 likely benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000724568 SCV000782745 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000525010 SCV001527880 uncertain significance Nemaline myopathy 2 2018-01-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV000525010 SCV001452168 uncertain significance Nemaline myopathy 2 2020-01-07 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004552998 SCV004767083 likely benign NEB-related disorder 2022-01-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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