ClinVar Miner

Submissions for variant NM_000637.5(GSR):c.334-5T>A

gnomAD frequency: 0.00920  dbSNP: rs28641651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000430217 SCV000511618 benign not provided 2016-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000430217 SCV003250516 likely benign not provided 2023-11-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922698 SCV004745762 benign GSR-related disorder 2019-05-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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