ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2304G>T (p.Glu768Asp) (rs78014899)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410061 SCV000489773 likely pathogenic Multiple endocrine neoplasia, type 2b 2015-12-29 criteria provided, single submitter clinical testing
Counsyl RCV000411546 SCV000489774 likely pathogenic Multiple endocrine neoplasia, type 2a 2015-12-29 criteria provided, single submitter clinical testing
Mendelics RCV000411546 SCV001138029 pathogenic Multiple endocrine neoplasia, type 2a 2019-05-28 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000032037 SCV000055387 pathogenic Multiple endocrine neoplasia, type 2 2018-05-04 no assertion criteria provided literature only Three individual reports: MTC only. One patient had bilateral MTC. Youngest with MTC: 41 yr. Additional references: PMID 12016484 and 12116277. Has been found with another RET change, see c.2304G>T(;)2410G>A.

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