ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2748C>T (p.Tyr916=)

gnomAD frequency: 0.00010  dbSNP: rs143931833
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000934266 SCV001079986 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276848 SCV001463432 likely benign Mucolipidosis type II 2020-04-17 no assertion criteria provided clinical testing

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