ClinVar Miner

Submissions for variant NM_014883.4(FAM13A):c.606-24587G>A

gnomAD frequency: 0.52969  dbSNP: rs7671167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001647268 SCV001856626 benign not provided 2020-02-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30079747)
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV001328405 SCV001519385 association Chronic obstructive pulmonary disease 2020-02-03 no assertion criteria provided case-control

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