ClinVar Miner

Submissions for variant NM_017514.5(PLXNA3):c.882C>T (p.Ser294=)

gnomAD frequency: 0.00080  dbSNP: rs140563543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971096 SCV001118714 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960832 SCV004768288 likely benign PLXNA3-related disorder 2021-06-26 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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