ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2862T>C (p.Pro954=)

gnomAD frequency: 0.00004  dbSNP: rs780618202
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941387 SCV001087272 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276847 SCV001463431 uncertain significance Mucolipidosis type II 2020-01-24 no assertion criteria provided clinical testing

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