ClinVar Miner

Submissions for variant NM_018951.4(HOXA10):c.364C>T (p.Pro122Ser)

gnomAD frequency: 0.00885  dbSNP: rs34720764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886642 SCV001030160 benign not provided 2018-06-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920665 SCV004732393 likely benign HOXA10-related disorder 2019-04-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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