ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.1179G>A (p.Gln393=)

gnomAD frequency: 0.00086  dbSNP: rs149118803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518860 SCV001727634 benign Cataract 21 multiple types; Ayme-Gripp syndrome 2023-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003416381 SCV004145073 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing MAF: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003921141 SCV004734115 likely benign MAF-related condition 2019-05-03 criteria provided, single submitter 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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