ClinVar Miner

Submissions for variant NM_020975.6(RET):c.868-18G>A

gnomAD frequency: 0.01028  dbSNP: rs57098408
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206444 SCV000261503 benign Multiple endocrine neoplasia, type 2 2025-02-04 criteria provided, single submitter clinical testing
Vantari Genetics RCV000210769 SCV000267087 benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000242363 SCV000313731 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000411696 SCV000489797 benign Multiple endocrine neoplasia type 2B 2016-03-28 criteria provided, single submitter clinical testing
Counsyl RCV000409257 SCV000489798 benign Multiple endocrine neoplasia type 2A 2016-03-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001675672 SCV000605027 benign not provided 2024-03-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000242363 SCV000704091 benign not specified 2016-12-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000242363 SCV001476552 benign not specified 2019-10-25 criteria provided, single submitter clinical testing
GeneDx RCV001675672 SCV001892595 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21542403)
Sema4, Sema4 RCV000210769 SCV002527930 benign Hereditary cancer-predisposing syndrome 2020-09-01 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000411696 SCV004017349 benign Multiple endocrine neoplasia type 2B 2023-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000409257 SCV004018070 benign Multiple endocrine neoplasia type 2A 2023-04-18 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Breakthrough Genomics, Breakthrough Genomics RCV001675672 SCV005319273 benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235112 SCV005881239 benign Pheochromocytoma 2025-02-01 criteria provided, single submitter clinical testing

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