ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup)

dbSNP: rs887468453
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699211 SCV000827911 likely benign Cataract 21 multiple types; Ayme-Gripp syndrome 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001585643 SCV001813395 likely benign not provided 2020-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000699211 SCV002807825 likely benign Cataract 21 multiple types; Ayme-Gripp syndrome 2021-12-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001585643 SCV004700743 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MAF: BP3, BS2
PreventionGenetics, part of Exact Sciences RCV003907951 SCV004727153 likely benign MAF-related condition 2022-05-04 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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