ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2559A>C (p.Thr853=)

gnomAD frequency: 0.00010  dbSNP: rs754863486
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
Invitae RCV001419337 SCV001621589 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2021-11-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832037 SCV002088574 likely benign Mucolipidosis type II 2021-02-25 no assertion criteria provided clinical testing

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