ClinVar Miner

Submissions for variant NM_002144.4(HOXB1):c.283C>A (p.Pro95Thr)

gnomAD frequency: 0.00319  dbSNP: rs150583509
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872417 SCV001014225 benign not provided 2018-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000872417 SCV001144235 benign not provided 2018-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487917 SCV002804182 likely benign Facial paresis, hereditary congenital, 3 2022-04-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955687 SCV004775490 benign HOXB1-related disorder 2020-02-05 criteria provided, single submitter 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).

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