ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.-10C>A

gnomAD frequency: 0.00053  dbSNP: rs1017797000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001277822 SCV002793525 uncertain significance GNPTG-mucolipidosis 2022-05-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277822 SCV001464799 uncertain significance GNPTG-mucolipidosis 2020-04-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003908488 SCV004726154 likely benign GNPTG-related disorder 2019-06-11 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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