ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1947C>T (p.Tyr649=)

dbSNP: rs746619207
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001417989 SCV001620207 likely benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2023-10-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826225 SCV002088582 likely benign Mucolipidosis type II 2021-06-19 no assertion criteria provided clinical testing

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