ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.919-18T>G

gnomAD frequency: 0.00017  dbSNP: rs767147359
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671149 SCV000796099 uncertain significance Pendred syndrome 2017-12-01 criteria provided, single submitter clinical testing
Invitae RCV001512979 SCV001720496 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671149 SCV002079983 likely benign Pendred syndrome 2021-06-30 no assertion criteria provided clinical testing

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