ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.317A>G (p.Asn106Ser)

dbSNP: rs2040342178
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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 RCV001330235 SCV001521858 uncertain significance Aicardi-Goutieres syndrome 1 2020-09-20 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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