ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.903G>A (p.Leu301=)

gnomAD frequency: 0.00043  dbSNP: rs141807632
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000923801 SCV001069296 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274308 SCV001458281 uncertain significance GNPTG-mucolipidosis 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003903033 SCV004723507 likely benign GNPTG-related disorder 2019-11-20 no assertion criteria provided 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).

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