ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.702A>C (p.Gly234=)

gnomAD frequency: 0.01232  dbSNP: rs779108045
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244986 SCV000311021 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000878139 SCV001020996 likely benign Cataract 21 multiple types; Ayme-Gripp syndrome 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001640537 SCV001860251 benign not provided 2021-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001640537 SCV004033504 benign not provided 2024-02-01 criteria provided, single submitter clinical testing MAF: BP4, BP7, BS1, BS2

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