ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr) (rs112513380)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000332264 SCV000335365 likely benign not specified 2015-10-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274472 SCV000453714 likely benign Chondrocalcinosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329530 SCV000453715 likely benign Craniometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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