ClinVar Miner

Submissions for variant NM_194250.2(ZNF804A):c.3357A>G (p.Ala1119=)

gnomAD frequency: 0.00228  dbSNP: rs138277674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000903096 SCV001047548 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000903096 SCV005241539 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003923008 SCV004739998 likely benign ZNF804A-related disorder 2021-01-04 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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