Submissions for variant NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn)

gnomAD frequency: 0.00725  dbSNP: rs112563569

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147696	SCV000195148	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000955715	SCV000518313	benign	not provided	2019-05-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000955715	SCV001102435	benign	not provided	2025-01-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000955715	SCV001145814	benign	not provided	2018-09-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001098059	SCV001254401	benign	Microcephaly 7, primary, autosomal recessive	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics	RCV000955715	SCV005284508	benign	not provided		criteria provided, single submitter	not provided