ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.16G>T (p.Ala6Ser)

gnomAD frequency: 0.00001  dbSNP: rs1243134852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699254 SCV005203180 uncertain significance not specified 2024-07-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277825 SCV001464803 uncertain significance GNPTG-mucolipidosis 2020-04-24 no assertion criteria provided clinical testing

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