Submissions for variant NM_022464.5(SIL1):c.1167C>T (p.Pro389=)

gnomAD frequency: 0.00028  dbSNP: rs199890503

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725744	SCV000339118	uncertain significance	not provided	2016-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000725744	SCV000524052	likely benign	not provided	2021-01-05	criteria provided, single submitter	clinical testing
Invitae	RCV001078848	SCV001017143	likely benign	Marinesco-Sjögren syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000725744	SCV001145632	benign	not provided	2019-06-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001078848	SCV001317462	uncertain significance	Marinesco-Sjögren syndrome	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000725744	SCV004161435	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	SIL1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003940013	SCV004749141	likely benign	SIL1-related condition	2019-04-04	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).