ClinVar Miner

Submissions for variant NM_020975.6(RET):c.337+9G>A (rs2435351)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082056 SCV000113995 benign not specified 2014-01-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282670 SCV000362238 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334351 SCV000362239 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372689 SCV000362240 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294618 SCV000362241 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000082056 SCV000200114 benign not specified 2018-04-19 criteria provided, single submitter clinical testing This variant is classified as benign because it has been identified in 36% (1044 7/29350) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org; dbSNP rs2435351). ACMG/AMP Criteria applied: BA1.
PreventionGenetics RCV000082056 SCV000313727 benign not specified criteria provided, single submitter clinical testing

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