ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.684C>G (p.Thr228=)

gnomAD frequency: 0.00060  dbSNP: rs150965148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000936662 SCV001082434 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960524 SCV004769203 likely benign GNPTG-related disorder 2019-11-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001273766 SCV001457248 likely benign GNPTG-mucolipidosis 2020-01-15 no assertion criteria provided clinical testing

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