ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2267+3G>C

gnomAD frequency: 0.02031  dbSNP: rs28639634
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000359596 SCV000410782 benign Deficiency of alpha-mannosidase 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000359596 SCV000627792 benign Deficiency of alpha-mannosidase 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000675477 SCV000973142 benign not provided 2018-06-13 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.
Fulgent Genetics, Fulgent Genetics RCV000359596 SCV002804995 benign Deficiency of alpha-mannosidase 2022-01-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675477 SCV005314683 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675477 SCV000801166 benign not provided 2017-09-21 no assertion criteria provided clinical testing
Natera, Inc. RCV000359596 SCV001454351 benign Deficiency of alpha-mannosidase 2020-09-16 no assertion criteria provided clinical testing

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