ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.185C>G (p.Thr62Arg)

dbSNP: rs727502771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002264911 SCV002547134 pathogenic not provided 2023-05-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29314435, 25865493)
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità RCV000149907 SCV000196758 pathogenic Ayme-Gripp syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.

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