ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.642_643del (p.Ser215fs)

dbSNP: rs1554095167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674939 SCV000800355 likely pathogenic Multiple epiphyseal dysplasia type 4 2018-06-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472176 SCV004201753 likely pathogenic Achondrogenesis, type IB 2023-08-22 criteria provided, single submitter clinical testing

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