ClinVar Miner

Submissions for variant NM_006885.4(ZFHX3):c.2793C>T (p.Gly931=)

gnomAD frequency: 0.00273  dbSNP: rs143351192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996329 SCV001150998 benign not provided 2022-09-01 criteria provided, single submitter clinical testing ZFHX3: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000996329 SCV005193517 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003936262 SCV004748713 likely benign ZFHX3-related disorder 2022-08-17 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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