Submissions for variant NM_000051.4(ATM):c.8011-6T>G

dbSNP: rs762092284

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234012	SCV000283069	likely benign	Ataxia-telangiectasia syndrome	2025-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000481088	SCV000572197	uncertain significance	not provided	2021-03-23	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing.; Published functional studies suggest no damaging effect: no effect on splicing, however, data was not available to independently review (Casadei 2019); Observed in individuals with endometrial and other cancers (Ring 2016, Casadei 2019); This variant is associated with the following publications: (PMID: 27443514, 31843900)
Color Diagnostics, LLC DBA Color Health	RCV000776130	SCV000911075	likely benign	Hereditary cancer-predisposing syndrome	2015-04-22	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005396739	SCV006058241	uncertain significance	Familial cancer of breast; Ataxia-telangiectasia syndrome	2020-06-23	criteria provided, single submitter	clinical testing
Counsyl	RCV000234012	SCV000789432	uncertain significance	Ataxia-telangiectasia syndrome	2017-01-31	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact [e-mail].
King Laboratory, University of Washington	RCV001171475	SCV001251390	benign	not specified	2019-09-01	no assertion criteria provided	research