ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.171G>A (p.Glu57=)

dbSNP: rs2113695676
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001461991 SCV001665902 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2020-04-23 criteria provided, single submitter clinical testing

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