ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=)

gnomAD frequency: 0.00003  dbSNP: rs757765886
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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
Invitae RCV000916281 SCV001061516 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2023-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832072 SCV002088595 likely benign Mucolipidosis type II 2020-03-29 no assertion criteria provided clinical testing

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