ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.409G>A (p.Asp137Asn)

dbSNP: rs267607222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496277 SCV002812688 likely pathogenic Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-02-27 criteria provided, single submitter clinical testing
OMIM RCV000006041 SCV000026223 pathogenic Cenani-Lenz syndactyly syndrome 2010-05-14 no assertion criteria provided literature only

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