ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) (rs138031468)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243499 SCV000317005 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000243499 SCV000334297 likely benign not specified 2015-09-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430046 SCV000511758 likely benign not provided 2016-12-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory,University of Chicago RCV000243499 SCV000593068 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV000557729 SCV000653869 benign Myasthenic syndrome, congenital, 8 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000430046 SCV000840719 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000557729 SCV000883240 benign Myasthenic syndrome, congenital, 8 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Benign, for Myasthenic syndrome, congenital, 8, autosomal recessive. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.

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