ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.1223G>A (p.Arg408His)

gnomAD frequency: 0.00002  dbSNP: rs750868626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001969571 SCV002260583 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002573381 SCV003690688 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.1223G>A (p.R408H) alteration is located in exon 4 (coding exon 2) of the BMP4 gene. This alteration results from a G to A substitution at nucleotide position 1223, causing the arginine (R) at amino acid position 408 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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