ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2320-4A>G

dbSNP: rs727503432
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004577908 SCV000466111 uncertain significance Hearing loss, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310972 SCV000466112 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000310972 SCV000796608 uncertain significance Pendred syndrome 2017-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001491999 SCV001696604 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing

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