ClinVar Miner

Submissions for variant NM_032242.4(PLXNA1):c.1614C>T (p.His538=)

gnomAD frequency: 0.10077  dbSNP: rs28710010
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001613728 SCV001834531 benign not provided 2018-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001613728 SCV002352007 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613728 SCV005301661 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980764 SCV004793553 benign PLXNA1-related disorder 2019-10-21 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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