Submissions for variant NM_005522.5(HOXA1):c.213C>T (p.His71=)

gnomAD frequency: 0.02428  dbSNP: rs2074398

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000315648	SCV000468557	likely benign	Bosley-Salih-Alorainy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374937	SCV000468558	likely benign	Human HOXA1 syndromes	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000309605	SCV000484300	likely benign	Bilateral microtia-deafness-cleft palate syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311429	SCV000846297	benign	Inborn genetic diseases	2016-03-13	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV004705436	SCV005226643	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003983030	SCV004799718	benign	HOXA1-related disorder	2019-06-07	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).