ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1501A>C (p.Asn501His)

gnomAD frequency: 0.03190  dbSNP: rs72897663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282284 SCV000372188 likely benign Cenani-Lenz syndactyly syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000550279 SCV000644094 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001618532 SCV001844015 benign not provided 2018-07-31 criteria provided, single submitter clinical testing

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