ClinVar Miner

Submissions for variant NM_015466.4(PTPN23):c.2830G>A (p.Ala944Thr)

gnomAD frequency: 0.34529  dbSNP: rs6780013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001653119 SCV001871298 benign not provided 2021-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001653119 SCV002404462 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653119 SCV005241865 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975834 SCV004798101 benign PTPN23-related disorder 2019-10-17 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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