ClinVar Miner

Submissions for variant NM_016734.3(PAX5):c.964G>A (p.Ala322Thr)

gnomAD frequency: 0.00861  dbSNP: rs34810717
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001640108 SCV001858265 benign not provided 2021-03-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Labcorp Genetics (formerly Invitae), Labcorp RCV001640108 SCV003250621 benign not provided 2025-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001640108 SCV005265648 benign not provided criteria provided, single submitter not provided
ITMI RCV000121770 SCV000085968 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000121770 SCV002035161 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001640108 SCV002036207 likely benign not provided no assertion criteria provided clinical testing

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