ClinVar Miner

Submissions for variant NM_004279.3(PMPCB):c.737-3T>C

gnomAD frequency: 0.49723  dbSNP: rs11489600
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001620657 SCV001847022 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789448 SCV002031506 benign Multiple mitochondrial dysfunctions syndrome 6 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001620657 SCV002444735 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001620657 SCV005268312 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980809 SCV004798890 benign PMPCB-related disorder 2020-01-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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