ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.299del (p.Pro100fs)

dbSNP: rs1581230727
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001007924 SCV001167635 pathogenic Achondrogenesis, type IB 2018-12-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001007924 SCV005056809 likely pathogenic Achondrogenesis, type IB 2024-03-27 criteria provided, single submitter clinical testing

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