ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.*4870dup

gnomAD frequency: 0.00983  dbSNP: rs368872246
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339091 SCV000455158 likely benign Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377267 SCV000455159 likely benign Sulfate transporter-related osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285572 SCV000455160 likely benign Multiple epiphyseal dysplasia type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342900 SCV000455161 likely benign Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395454 SCV000455162 likely benign Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing

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