ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu)

gnomAD frequency: 0.00005  dbSNP: rs761261049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093212 SCV001250078 pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001476328 SCV001680536 likely benign Spastic paraplegia 2023-10-24 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001528127 SCV001739335 uncertain significance Lymphatic malformation 3 2021-04-12 no assertion criteria provided clinical testing

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