Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685866 | SCV000813366 | likely benign | Brachydactyly type A2; Acromesomelic dysplasia 3 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003409723 | SCV004106349 | uncertain significance | BMPR1B-related condition | 2023-03-15 | criteria provided, single submitter | clinical testing | The BMPR1B c.1112G>A variant is predicted to result in the amino acid substitution p.Arg371Gln. This variant was reported in an individual with pulmonary arterial hypertension (Supplementary Dataset 1 in Wang et al. 2018. PubMed ID: 30578397) and in a patient with cleft lip with/without cleft palate (Marini et al. 2019. PubMed ID: 31063268). This variant is reported in 0.13% of alleles in individuals of South Asian descent in gnomAD, including one homozygous individual (http://gnomad.broadinstitute.org/variant/4-96069934-G-A). This variant has been interpreted by a single submitter in ClinVar as likely benign (https://preview.ncbi.nlm.nih.gov/clinvar/variation/441001/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Genome |
RCV000509388 | SCV000607055 | not provided | Brachydactyly type A2 | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |