ClinVar Miner

Submissions for variant NM_016628.5(WAC):c.1101dup (p.Pro368fs)

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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 RCV001332151 SCV001524370 pathogenic Desanto-shinawi syndrome 2019-03-08 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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