ClinVar Miner

Submissions for variant NM_000533.5(PLP1):c.-31C>T (rs2233695)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204678 SCV000261372 benign Hereditary spastic paraplegia 2 2015-10-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514040 SCV000610952 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514040 SCV000843294 benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001258262 SCV001435182 benign Pelizaeus-Merzbacher disease criteria provided, single submitter research The hemizygous c.-31C>T variant in PLP1 has been identified in a Japanese individual with Perlizaeus-Merzbacher disease (PMID: 8723686), and has been identified in >2% of East Asian chromosomes, 61 hemizygotes, and 1 homozygote by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for X-linked recessive Perlizaeus-Merzbacher disease.

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