ClinVar Miner

Submissions for variant NM_002382.5(MAX):c.37-15del

dbSNP: rs747340873
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587039 SCV000697919 benign not provided 2016-04-28 criteria provided, single submitter clinical testing Variant summary: The variant of interest is located at a non-conserved intronic position, not widely known to affect splicing, with 5/5 in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2453/48344 (1/19), which exceeds the predicted maximum expected allele frequency for a pathogenic MAX variant of 1/40000000. The variant of interest, to our knowledge, has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories. Therefore, the variant of interest is classified as Benign.
GeneDx RCV000587039 SCV001801331 likely benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Invitae RCV003517230 SCV004269392 benign Hereditary pheochromocytoma-paraganglioma 2023-12-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000587039 SCV001808602 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001692217 SCV001906426 benign not specified no assertion criteria provided clinical testing

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