ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)

gnomAD frequency: 0.00006  dbSNP: rs375412223
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529425 SCV000640830 benign Nemaline myopathy 2 2024-01-10 criteria provided, single submitter clinical testing
Counsyl RCV000529425 SCV000798416 uncertain significance Nemaline myopathy 2 2018-03-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000529425 SCV001289720 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.
Fulgent Genetics, Fulgent Genetics RCV002506339 SCV002816330 uncertain significance Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-09-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129901 SCV003811616 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003129901 SCV005187955 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000529425 SCV001453486 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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