Submissions for variant NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=)

gnomAD frequency: 0.00296  dbSNP: rs188815175

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000967815	SCV001115235	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001136592	SCV001296446	likely benign	Retinitis pigmentosa	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics	RCV002489393	SCV002801705	likely benign	Retinitis pigmentosa 54	2021-11-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000967815	SCV004143993	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PCARE: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center	RCV001701388	SCV001925713	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000967815	SCV001974623	likely benign	not provided		no assertion criteria provided	clinical testing