ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1636C>G (p.Leu546Val) (rs2227924)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128892 SCV000172752 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000224104 SCV000840920 benign not provided 2018-05-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224104 SCV000280796 benign not provided 2015-12-22 criteria provided, single submitter clinical testing
Color RCV000128892 SCV000681989 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120117 SCV000225148 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000120117 SCV000167065 benign not specified 2013-10-01 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 RCV000120117 SCV000084254 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000205062 SCV000367030 likely benign Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205062 SCV000262429 benign Ataxia-telangiectasia syndrome 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120117 SCV000301654 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128892 SCV000805210 benign Hereditary cancer-predisposing syndrome 2018-06-18 no assertion criteria provided clinical testing

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