ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)

gnomAD frequency: 0.00086  dbSNP: rs151234321
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393021 SCV000340290 uncertain significance not provided 2016-04-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394052 SCV000372170 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001087525 SCV000765674 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-18 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000393021 SCV001711956 likely benign not provided 2021-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000393021 SCV001772345 likely benign not provided 2021-09-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000393021 SCV001926685 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000393021 SCV001964973 likely benign not provided no assertion criteria provided clinical testing

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