ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1310-22C>T

gnomAD frequency: 0.50963  dbSNP: rs73002392
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000675481 SCV000986644 benign not provided 2018-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001527141 SCV001738053 benign Deficiency of alpha-mannosidase 2021-06-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675481 SCV000801171 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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