ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=)

gnomAD frequency: 0.00964  dbSNP: rs10410289
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000308550 SCV000410778 benign Deficiency of alpha-mannosidase 2018-01-12 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 RCV000308550 SCV000627793 benign Deficiency of alpha-mannosidase 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675474 SCV005314678 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675474 SCV000801163 benign not provided 2017-08-15 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000675474 SCV001977978 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729540 SCV001978847 benign not specified no assertion criteria provided clinical testing

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