ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.430+10C>T

dbSNP: rs863224395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003389652 SCV000698316 likely benign not specified 2023-10-09 criteria provided, single submitter clinical testing Variant summary: BMPR1A c.430+10C>T alters a non-conserved nucleotide located at a position not widely known to affect splicing. The variant was absent in 251416 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.430+10C>T has been reported in the literature. This report does not provide unequivocal conclusions about association of the variant with Juvenile Polyposis Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 28135145). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified as likely benign (n=1) and VUS (n=2). Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV001410443 SCV001612490 likely benign Juvenile polyposis syndrome 2024-01-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255468 SCV002528601 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-20 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589857 SCV002774451 uncertain significance not provided 2021-09-05 criteria provided, single submitter clinical testing

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