ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1830+1G>C (rs80338677)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000020364 SCV000220221 pathogenic Deficiency of alpha-mannosidase 2014-04-03 criteria provided, single submitter literature only
Ambry Genetics RCV000622767 SCV000742222 pathogenic Inborn genetic diseases 2017-05-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
GeneReviews RCV000020364 SCV000040751 pathologic Deficiency of alpha-mannosidase 2012-05-03 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000020364 SCV000056374 pathogenic Deficiency of alpha-mannosidase 2012-03-01 no assertion criteria provided literature only

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