ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.545C>A (p.Ala182Asp)

dbSNP: rs559947967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171151 SCV000221347 likely pathogenic not provided criteria provided, single submitter research
Blueprint Genetics RCV000171151 SCV000928175 likely pathogenic not provided 2019-01-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV001283780 SCV001522360 pathogenic Reticular dysgenesis 2019-11-27 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283780 SCV001469155 pathogenic Reticular dysgenesis 2020-11-12 no assertion criteria provided clinical testing

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