ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.611G>T (p.Gly204Val)

gnomAD frequency: 0.01145  dbSNP: rs867401075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556258 SCV000655012 benign Cataract 21 multiple types; Ayme-Gripp syndrome 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001692191 SCV001911223 benign not provided 2020-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002526706 SCV003682249 benign Inborn genetic diseases 2022-05-29 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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