ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) (rs201767727)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723767 SCV000203068 uncertain significance not provided 2014-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000723767 SCV000513921 benign not provided 2019-01-16 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; This variant is associated with the following publications: (PMID: 27884173, 16917880, 12207938)
Invitae RCV001082253 SCV000763132 likely benign Nemaline myopathy 2 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000153540 SCV001144717 benign not specified 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082253 SCV001292512 uncertain significance Nemaline myopathy 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723767 SCV001334535 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001082253 SCV001737175 likely benign Nemaline myopathy 2 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082253 SCV001456469 likely benign Nemaline myopathy 2 2020-01-11 no assertion criteria provided clinical testing

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