ClinVar Miner

Submissions for variant NM_006492.3(ALX3):c.414G>A (p.Pro138=)

gnomAD frequency: 0.00152  dbSNP: rs150660098
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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 RCV003563636 SCV004313517 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966533 SCV004781890 likely benign ALX3-related disorder 2020-01-02 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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