ClinVar Miner

Submissions for variant NM_145020.5(CFAP53):c.778-12A>T

gnomAD frequency: 0.32055  dbSNP: rs920791
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252562 SCV000316068 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001618481 SCV001844732 benign not provided 2021-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058408 SCV002462167 benign Heterotaxy, visceral, 6, autosomal 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618481 SCV005250797 benign not provided criteria provided, single submitter not provided

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