ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) (rs146709251)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000615063 SCV000711271 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg1474Trp in exon 29 of ABCA3: This variant is not expected to have clinical si gnificance because it has been identified in 3.8% (7/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.go v/projects/SNP; dbSNP rs146709251).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000615063 SCV000857202 likely benign not specified 2017-10-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001118501 SCV001276788 benign Surfactant metabolism dysfunction, pulmonary, 3 2017-07-14 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001518823 SCV001727592 benign not provided 2020-08-25 criteria provided, single submitter clinical testing
GeneDx RCV001518823 SCV001796454 likely benign not provided 2020-08-07 no assertion criteria provided clinical testing This variant is associated with the following publications: (PMID: 22866751, 25553246, 28724397, 23166334, 27374344)

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