ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile) (rs76668544)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000361664 SCV000334650 uncertain significance not provided 2015-08-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367416 SCV000454812 uncertain significance Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407213 SCV000454813 uncertain significance Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299908 SCV000454814 uncertain significance Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354703 SCV000454815 uncertain significance Osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259647 SCV000454816 uncertain significance Multiple epiphyseal dysplasia 4 2016-06-14 criteria provided, single submitter clinical testing

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