ClinVar Miner

Submissions for variant NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro)

gnomAD frequency: 0.00101  dbSNP: rs147223483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335239 SCV001528339 uncertain significance Pancreatic insufficiency-anemia-hyperostosis syndrome 2018-08-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003698863 SCV004455255 likely benign not provided 2024-03-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003698863 SCV005194921 uncertain significance not provided criteria provided, single submitter not provided

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