ClinVar Miner

Submissions for variant NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del)

dbSNP: rs756800816
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729389 SCV000857046 likely benign not specified 2017-10-06 criteria provided, single submitter clinical testing
Invitae RCV000879855 SCV001022910 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493314 SCV002801898 likely benign Dermatofibrosis lenticularis disseminata 2021-07-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000879855 SCV004135458 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing LEMD3: BS1
OMIM RCV001194667 SCV001364406 pathogenic OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS 2020-06-22 no assertion criteria provided literature only

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