ClinVar Miner

Submissions for variant NM_006129.5(BMP1):c.1297+14C>T

gnomAD frequency: 0.00746  dbSNP: rs151163052
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001159121 SCV001320809 benign Osteogenesis imperfecta type 13 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002070961 SCV002470095 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002070961 SCV005266640 benign not provided criteria provided, single submitter not provided

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