ClinVar Miner

Submissions for variant NM_005522.4(HOXA1):c.566A>C (p.Glu189Ala) (rs17500494)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000375444 SCV000468541 uncertain significance Bosley-Salih-Alorainy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278573 SCV000468542 uncertain significance Human HOXA1 syndromes 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715563 SCV000846392 likely benign History of neurodevelopmental disorder 2018-06-21 criteria provided, single submitter clinical testing Other strong data
Invitae RCV000876173 SCV001018705 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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