ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.197C>T (p.Ser66Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759644 SCV005368427 pathogenic Ayme-Gripp syndrome 2024-09-03 criteria provided, single submitter clinical testing Criteria applied: PS2,PM2,PM5,PS4_SUP,PP2,PP3

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