ClinVar Miner

Submissions for variant NM_003504.5(CDC45):c.326_329dup (p.Asn111fs)

dbSNP: rs752023208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital RCV000850142 SCV000886897 pathogenic Meier-Gorlin syndrome 7 2018-06-08 criteria provided, single submitter research
Baylor Genetics RCV000850142 SCV001529630 pathogenic Meier-Gorlin syndrome 7 2018-03-19 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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