ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser)

gnomAD frequency: 0.00115  dbSNP: rs201794404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316782 SCV000341465 uncertain significance not provided 2016-05-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000316782 SCV001334557 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TRIOBP: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287744 SCV001474464 benign Autosomal recessive nonsyndromic hearing loss 28 2019-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000316782 SCV002344258 benign not provided 2024-01-10 criteria provided, single submitter clinical testing

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