ClinVar Miner

Submissions for variant NM_001348768.2(HECW2):c.1249_1251del (p.Asn417del)

gnomAD frequency: 0.00001  dbSNP: rs774571391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003930024 SCV004744415 likely benign HECW2-related condition 2019-09-30 criteria provided, single submitter 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).
CHU Sainte-Justine Research Center, University of Montreal RCV000240078 SCV000299176 likely benign Oromandibular-limb hypogenesis spectrum 2016-08-12 no assertion criteria provided research

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