ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) (rs2235000)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000224639 SCV000883427 benign not provided 2018-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128890 SCV000172750 benign Hereditary cancer-predisposing syndrome 2014-10-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000224639 SCV000840918 benign not provided 2017-09-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224639 SCV000281397 benign not provided 2016-04-25 criteria provided, single submitter clinical testing
Color RCV000128890 SCV000681980 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120115 SCV000341036 benign not specified 2016-05-12 criteria provided, single submitter clinical testing
GeneDx RCV000120115 SCV000167064 benign not specified 2013-10-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000120115 SCV000084252 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000401591 SCV000367029 likely benign Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000401591 SCV000558304 benign Ataxia-telangiectasia syndrome 2018-01-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120115 SCV000301653 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128890 SCV000787845 benign Hereditary cancer-predisposing syndrome 2017-11-14 no assertion criteria provided clinical testing
Vantari Genetics RCV000128890 SCV000266235 benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing

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