ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr)

gnomAD frequency: 0.00327  dbSNP: rs34234609
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001081123 SCV000417009 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514414 SCV000610595 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081123 SCV000640788 benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000514414 SCV000732374 likely benign not provided 2020-03-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000514414 SCV001476575 likely benign not provided 2020-02-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514414 SCV004154170 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing NEB: BP4
Breakthrough Genomics, Breakthrough Genomics RCV000514414 SCV005256335 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001081123 SCV001452164 benign Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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