ClinVar Miner

Submissions for variant NM_145020.5(CFAP53):c.57A>G (p.Lys19=)

gnomAD frequency: 0.00310  dbSNP: rs180778332
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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 RCV000250683 SCV000316065 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535506 SCV000652727 benign Heterotaxy, visceral, 6, autosomal 2025-01-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703561 SCV005207145 likely benign not provided criteria provided, single submitter not provided

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