ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.37-25dup (rs747340873)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000292365 SCV000387943 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589849 SCV000697921 benign not provided 2016-04-29 criteria provided, single submitter clinical testing Variant summary: The c.37-15dupT variant affects a non-conserved intronic nucleotide at a location not widely known to affect splicing. 5/5 in silico tools predict the variant not to affect splicing. This variant is found in 3433/48344 control chromosomes at a frequency of 0.0710119, which is about 2840477 times greater than the maximal expected frequency of a pathogenic allele (2.5e-08), suggesting this variant is benign polymorphism. Taken together, this variant is classified as Benign.

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