ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.228C>T (p.Asp76=)

gnomAD frequency: 0.00001  dbSNP: rs540190619
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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 RCV000930929 SCV001076589 benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-05-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836024 SCV002088612 likely benign Mucolipidosis type II 2020-03-18 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533583 SCV004737389 likely benign GNPTAB-related disorder 2019-05-20 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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