ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) (rs41265127)

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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 RCV000180184 SCV000232576 likely benign not specified 2015-04-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224625 SCV000280786 benign not provided 2015-03-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000180184 SCV000305501 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000987055 SCV000641737 benign Lethal multiple pterygium syndrome 2020-11-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224625 SCV000693041 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Mendelics RCV000987055 SCV001136244 benign Lethal multiple pterygium syndrome 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000224625 SCV001143558 benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001142817 SCV001303301 likely benign Congenital myasthenic syndrome 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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