ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.650G>A (p.Gly217Asp)

dbSNP: rs786205605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171442 SCV000221640 likely pathogenic not provided criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003984826 SCV004801188 likely pathogenic Hereditary spastic paraplegia 2 2024-03-14 criteria provided, single submitter research

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