ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.337dup (p.Arg113fs) (rs775043799)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409586 SCV000487704 likely pathogenic Meckel syndrome type 1 2016-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000411143 SCV000487705 likely pathogenic Bardet-Biedl syndrome 13 2016-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000412146 SCV000487706 likely pathogenic Joubert syndrome 28 2016-11-02 criteria provided, single submitter clinical testing

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