ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2266A>G (p.Thr756Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004970088 SCV005539381 uncertain significance Inborn genetic diseases 2024-07-14 criteria provided, single submitter clinical testing The c.2266A>G (p.T756A) alteration is located in exon 12 (coding exon 12) of the BMPR2 gene. This alteration results from a A to G substitution at nucleotide position 2266, causing the threonine (T) at amino acid position 756 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023758 SCV005654592 uncertain significance Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2024-01-13 criteria provided, single submitter clinical testing

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