Submissions for variant NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)

gnomAD frequency: 0.00119  dbSNP: rs140901235

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179801	SCV000232109	uncertain significance	not provided	2014-12-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000144088	SCV001160302	likely benign	Autosomal recessive nonsyndromic hearing loss 28	2019-03-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000179801	SCV001983847	uncertain significance	not provided	2021-05-20	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000179801	SCV002446953	likely benign	not provided	2024-01-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000179801	SCV004147850	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	TRIOBP: BP4
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000144088	SCV000189162	untested	Autosomal recessive nonsyndromic hearing loss 28		no assertion provided	not provided	Converted during submission to not provided.