ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)

gnomAD frequency: 0.00023  dbSNP: rs77826191
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001086153 SCV000417038 uncertain significance Nemaline myopathy 2 2018-01-12 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 RCV000494281 SCV000581729 likely benign not provided 2019-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086153 SCV001018403 likely benign Nemaline myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000494281 SCV004147021 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing NEB: BP4
Natera, Inc. RCV001086153 SCV001457256 uncertain significance Nemaline myopathy 2 2020-01-06 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004549753 SCV004769984 likely benign NEB-related disorder 2020-09-23 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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