ClinVar Miner

Submissions for variant NM_006735.4(HOXA2):c.*108C>T

gnomAD frequency: 0.03326  dbSNP: rs117630421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318797 SCV000468574 likely benign Bilateral microtia-deafness-cleft palate syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366672 SCV000484301 likely benign Bosley-Salih-Alorainy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000403488 SCV000484302 likely benign Human HOXA1 syndromes 2016-06-14 criteria provided, single submitter clinical testing

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