ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu)

gnomAD frequency: 0.01649  dbSNP: rs41296243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001615 SCV001159066 benign Autosomal recessive nonsyndromic hearing loss 28 2020-04-09 criteria provided, single submitter clinical testing
GeneDx RCV001619876 SCV001843773 benign not provided 2019-07-09 criteria provided, single submitter clinical testing
Invitae RCV001619876 SCV002366684 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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