ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn)

dbSNP: rs4821700
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000948135 SCV000717106 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000605383 SCV000744152 benign Autosomal recessive nonsyndromic hearing loss 28 2015-07-01 criteria provided, single submitter clinical testing
Invitae RCV000948135 SCV001094330 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000605383 SCV000734128 benign Autosomal recessive nonsyndromic hearing loss 28 no assertion criteria provided clinical testing

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