ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.895C>A (p.Arg299Ser)

dbSNP: rs786205221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223802 SCV002503139 likely pathogenic not provided 2020-07-18 criteria provided, single submitter clinical testing
OMIM RCV000170458 SCV000222890 pathogenic Cataract 21 multiple types 2007-10-18 no assertion criteria provided literature only

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