ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.177+2T>C

dbSNP: rs779221957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330145 SCV001521752 likely pathogenic Beta-D-mannosidosis 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity Omics RCV001330145 SCV002022752 likely pathogenic Beta-D-mannosidosis 2019-12-28 criteria provided, single submitter clinical testing

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