ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.676-4A>G (rs929042482)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000590297 SCV000632730 likely benign not provided 2018-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574849 SCV000668323 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000574849 SCV000688288 likely benign Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590297 SCV000698319 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.676-4A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 118456 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590297 SCV001133468 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing

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