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

dbSNP: rs747340873

Total submissions: 5

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
Labcorp Genetics (formerly Invitae), Labcorp	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