ClinVar Miner

Submissions for variant NM_080546.5(SLC44A1):c.*862G>A

gnomAD frequency: 0.79264  dbSNP: rs2771040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003981947 SCV004798953 benign SLC44A1-related disorder 2024-02-11 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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