Submissions for variant NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His)

gnomAD frequency: 0.00137  dbSNP: rs139991238

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000286797	SCV000335748	uncertain significance	not provided	2015-11-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343756	SCV000410670	likely benign	Polycystic liver disease 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000286797	SCV001100941	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000343756	SCV001526823	uncertain significance	Polycystic liver disease 1	2018-04-22	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV000286797	SCV001812616	likely benign	not provided	2020-07-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16835903, 22415584)
CeGaT Center for Human Genetics Tuebingen	RCV000286797	SCV004810869	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	PRKCSH: BS1, BS2