Submissions for variant NM_020433.5(JPH2):c.380-6C>T

gnomAD frequency: 0.00201  dbSNP: rs201197277

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125443	SCV000168895	benign	not specified	2014-01-20	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	RCV000205602	SCV000261181	benign	Hypertrophic cardiomyopathy	2025-01-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000125443	SCV000269184	benign	not specified	2015-04-03	criteria provided, single submitter	clinical testing	c.380-6C>T in intron 2 of JPH2: This variant is not expected to have clinical si gnificance because a C>T change at this position does not significantly alter th e splice consensus sequence and is not predicted to impact splicing. It has also been identified in 1.42% (171/12072) of South Asian chromosomes and 0.3% of Eur opean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs201197277).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000606774	SCV000743105	benign	Hypertrophic cardiomyopathy 17	2017-03-02	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000606774	SCV000744115	benign	Hypertrophic cardiomyopathy 17	2015-09-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004597745	SCV005093371	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	JPH2: BP4, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606774	SCV000734074	likely benign	Hypertrophic cardiomyopathy 17		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000125443	SCV001922568	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000125443	SCV001951480	benign	not specified		no assertion criteria provided	clinical testing