ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3988del (p.Tyr1330fs)

dbSNP: rs1595363945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000851465 SCV000993749 likely pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV001292659 SCV001481260 likely pathogenic Euthyroid goiter 2019-07-17 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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