ClinVar Miner

Submissions for variant NM_005522.5(HOXA1):c.684A>G (p.Gln228=)

gnomAD frequency: 0.00175  dbSNP: rs34462126
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000277241 SCV000341839 uncertain significance not provided 2016-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000277241 SCV001006053 benign not provided 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374475 SCV002667558 benign Inborn genetic diseases 2019-05-09 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.
CeGaT Center for Human Genetics Tuebingen RCV000277241 SCV004163854 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing HOXA1: BP4, BP7

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