ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)

gnomAD frequency: 0.00009  dbSNP: rs139333406
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558325 SCV000640752 likely benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000558325 SCV001292400 benign 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Natera, Inc. RCV000558325 SCV001454425 uncertain significance Nemaline myopathy 2 2019-12-23 no assertion criteria provided clinical testing

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