ClinVar Miner

Submissions for variant NM_001257096.2(PAX1):c.1123C>G (p.Gln375Glu)

gnomAD frequency: 0.00237  dbSNP: rs148928178
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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 RCV000955760 SCV001102488 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000955760 SCV005207437 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003960667 SCV004767560 benign PAX1-related disorder 2024-04-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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