ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1773_1776del (p.Asn591fs)

dbSNP: rs1755096552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV002238705 SCV002512043 pathogenic Diastrophic dysplasia 2022-04-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475308 SCV004201747 likely pathogenic Achondrogenesis, type IB 2023-08-29 criteria provided, single submitter clinical testing

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