ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.931G>A (p.Val311Met)

dbSNP: rs1586807556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992075 SCV001144050 uncertain significance not provided 2020-03-10 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003141913 SCV003807135 uncertain significance Charcot-Marie-Tooth disease recessive intermediate A 2022-04-04 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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