Submissions for variant NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser)

gnomAD frequency: 0.27092  dbSNP: rs9411313

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173227	SCV000224322	benign	not specified	2015-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000173227	SCV000731029	benign	not specified	2017-06-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000947224	SCV001093396	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000988308	SCV001137976	benign	Autosomal recessive nonsyndromic hearing loss 79	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000988308	SCV001158883	benign	Autosomal recessive nonsyndromic hearing loss 79	2023-11-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000947224	SCV005318069	benign	not provided		criteria provided, single submitter	not provided