ClinVar Miner

Submissions for variant NM_004483.5(GCSH):c.84G>A (p.Pro28=)

gnomAD frequency: 0.00005  dbSNP: rs775381594
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638299 SCV000759793 likely benign Non-ketotic hyperglycinemia 2021-02-15 criteria provided, single submitter clinical testing
GeneDx RCV001619817 SCV001843379 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918024 SCV004731231 benign GCSH-related condition 2019-04-05 criteria provided, single submitter 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703219 SCV001927801 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703219 SCV001972455 benign not specified no assertion criteria provided clinical testing

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