ClinVar Miner

Submissions for variant NM_001384317.1(ZHX3):c.2249A>T (p.Asp750Val)

gnomAD frequency: 0.00270  dbSNP: rs147861291
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002161092 SCV002473189 benign not provided 2025-01-11 criteria provided, single submitter clinical testing
New York Genome Center RCV002161092 SCV003925274 uncertain significance not provided 2022-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002161092 SCV005308775 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003923803 SCV004751062 likely benign ZHX3-related disorder 2021-07-28 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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