ClinVar Miner

Submissions for variant NM_145331.3(MAP3K7):c.608-1G>A

dbSNP: rs1180249151
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985236 SCV001133271 likely pathogenic Frontometaphyseal dysplasia 2 2019-09-26 no assertion criteria provided clinical testing

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