ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.996G>A (p.Pro332=)

gnomAD frequency: 0.00001  dbSNP: rs376300575
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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 RCV001401197 SCV001603019 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2024-10-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831426 SCV002081856 likely benign Achondrogenesis, type IB 2021-05-28 no assertion criteria provided clinical testing

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