ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.*7C>T

gnomAD frequency: 0.00051  dbSNP: rs199514174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400673 SCV000387942 benign Pheochromocytoma 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.
GeneDx RCV001568749 SCV001792674 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317190 SCV004020876 benign not specified 2023-06-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001568749 SCV005219478 likely benign not provided criteria provided, single submitter not provided

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