ClinVar Miner

Submissions for variant NM_170682.4(P2RX2):c.906-7A>T

gnomAD frequency: 0.00081  dbSNP: rs375236332
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566377 SCV001789882 likely benign not provided 2022-06-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001566377 SCV002337794 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001566377 SCV005217290 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003966201 SCV004786970 likely benign P2RX2-related disorder 2019-04-05 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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