ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1343-5T>C

dbSNP: rs1554891558
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581263 SCV000688237 likely benign Hereditary cancer-predisposing syndrome 2017-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581263 SCV002693675 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-11 criteria provided, single submitter clinical testing The c.1343-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 10 in the BMPR1A gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529213 SCV003204877 likely benign Juvenile polyposis syndrome 2022-07-06 criteria provided, single submitter clinical testing

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