ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1296A>G (p.Ala432=) (rs1800860)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131068 SCV000185998 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082048 SCV000113983 benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265973 SCV000362295 benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321087 SCV000362296 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380264 SCV000362297 benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285939 SCV000362298 benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000548337 SCV000658401 benign Multiple endocrine neoplasia, type 2 2017-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000082048 SCV000200116 benign not specified 2018-03-12 criteria provided, single submitter clinical testing This "variant" is a RefSeq error. G at this position is the major allele with an allele frequency of 70% in gnomAD (http://gnomad.broadinstitute.org/variant/10- 43606687-A-G).
PreventionGenetics RCV000082048 SCV000313712 benign not specified criteria provided, single submitter clinical testing

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