ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.768G>A (p.Thr256=)

gnomAD frequency: 0.00002  dbSNP: rs552050976
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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 RCV001466757 SCV001670766 likely benign not provided 2024-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495684 SCV002798726 likely benign Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2022-05-04 criteria provided, single submitter clinical testing

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