ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1879+18G>A

gnomAD frequency: 0.00003  dbSNP: rs368088386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002188903 SCV002485214 likely benign Multiple endocrine neoplasia, type 2 2024-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486996 SCV002799339 likely benign Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2022-03-23 criteria provided, single submitter clinical testing

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