ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=)

gnomAD frequency: 0.00002  dbSNP: rs762132863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904500 SCV001049020 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825819 SCV002081864 likely benign Achondrogenesis, type IB 2020-02-14 no assertion criteria provided clinical testing

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