ClinVar Miner

Submissions for variant NM_015341.5(NCAPH):c.19+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989377 SCV004808171 likely pathogenic Microcephaly 23, primary, autosomal recessive 2024-03-29 criteria provided, single submitter clinical testing

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