ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del)

dbSNP: rs1229626204
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525623 SCV000655013 likely benign Cataract 21 multiple types; Ayme-Gripp syndrome 2024-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525313 SCV003692332 likely benign Inborn genetic diseases 2022-04-20 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV003424143 SCV004145075 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing MAF: BS1

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