ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.947C>T (p.Pro316Leu)

gnomAD frequency: 0.00823  dbSNP: rs760502262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224481 SCV000281411 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000224481 SCV000513151 benign not provided 2019-01-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24457200, 28732089, 20537300)
Labcorp Genetics (formerly Invitae), Labcorp RCV001086089 SCV000629510 benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847952 SCV002104743 likely benign Hereditary spastic paraplegia 2021-05-14 criteria provided, single submitter clinical testing

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