ClinVar Miner

Submissions for variant NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val)

gnomAD frequency: 0.00007  dbSNP: rs141811441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698116 SCV000725232 likely benign not provided 2021-05-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: ZHANG2015[ChineseJournalofOtology], 33310157, 26797701)
Labcorp Genetics (formerly Invitae), Labcorp RCV001698116 SCV002464901 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498939 SCV002808191 likely benign Autosomal dominant nonsyndromic hearing loss 25 2022-01-20 criteria provided, single submitter clinical testing

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