ClinVar Miner

Submissions for variant NM_005797.4(MPZL2):c.226-1G>A

dbSNP: rs1949708829
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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 RCV001283815 SCV001469221 likely pathogenic Hearing loss, autosomal recessive 111 2020-05-06 no assertion criteria provided clinical testing

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