ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.882G>A (p.Arg294=)

gnomAD frequency: 0.00061  dbSNP: rs140303158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248111 SCV000311022 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002058188 SCV002414019 benign Cataract 21 multiple types; Ayme-Gripp syndrome 2023-11-27 criteria provided, single submitter clinical testing

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