ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=)

gnomAD frequency: 0.00074  dbSNP: rs112000802
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Total submissions: 3
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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 RCV000586492 SCV000699476 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000884983 SCV001028396 benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-10-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276852 SCV001463438 uncertain significance Mucolipidosis type II 2020-04-17 no assertion criteria provided clinical testing

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