ClinVar Miner

Submissions for variant NM_145054.5(CFAP52):c.1304del (p.Gly435fs)

dbSNP: rs1360832162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706952 SCV001934551 uncertain significance Oculomotor apraxia; Situs inversus 2020-09-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001775181 SCV003836425 likely pathogenic Heterotaxy, visceral, 10, autosomal, with male infertility 2022-03-23 criteria provided, single submitter clinical testing
OMIM RCV001775181 SCV002011847 pathogenic Heterotaxy, visceral, 10, autosomal, with male infertility 2021-11-05 no assertion criteria provided literature only

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