ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.102G>A (p.Leu34=) (rs116591972)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710576 SCV000840818 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000374906 SCV000344549 benign not specified 2016-09-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386092 SCV000453822 likely benign Chondrocalcinosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275378 SCV000453823 likely benign Craniometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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