ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2505C>T (p.Pro835=)

gnomAD frequency: 0.00001  dbSNP: rs775650744
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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 RCV001394436 SCV001596120 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2023-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279465 SCV001466560 uncertain significance Mucolipidosis type II 2020-04-17 no assertion criteria provided clinical testing

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