ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3335+5G>C

dbSNP: rs1396473895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329955 SCV001521524 uncertain significance Mucolipidosis type II 2019-02-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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