ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) (rs116474260)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000031885 SCV000455424 likely benign Hyperekplexia 1 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454994 SCV000539244 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: DM? in HGMD, frequency
Invitae RCV000031885 SCV000638477 benign Hyperekplexia 1 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000031885 SCV000743539 benign Hyperekplexia 1 2014-10-09 criteria provided, single submitter clinical testing
Mendelics RCV000031885 SCV001137013 likely benign Hyperekplexia 1 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000031885 SCV000054499 pathologic Hyperekplexia 1 2012-10-04 no assertion criteria provided curation Converted during submission to Pathogenic.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031885 SCV000734388 benign Hyperekplexia 1 no assertion criteria provided clinical testing

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