ClinVar Miner

Submissions for variant NM_020975.6(RET):c.199C>G (p.Arg67Gly)

dbSNP: rs749390385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292753 SCV001481395 uncertain significance Hirschsprung disease, susceptibility to, 1 2020-02-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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