ClinVar Miner

Submissions for variant NM_145020.5(CFAP53):c.691C>T (p.Arg231Cys)

gnomAD frequency: 0.03902  dbSNP: rs12607385
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248005 SCV000316067 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522907 SCV001732540 benign Heterotaxy, visceral, 6, autosomal 2024-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709473 SCV005250798 benign not provided criteria provided, single submitter not provided

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