ClinVar Miner

Submissions for variant NM_145020.5(CFAP53):c.880G>A (p.Glu294Lys)

gnomAD frequency: 0.28522  dbSNP: rs35193847
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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 RCV000251694 SCV000316071 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521997 SCV001731444 benign Heterotaxy, visceral, 6, autosomal 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001618482 SCV001844990 benign not provided 2021-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618482 SCV005250794 benign not provided criteria provided, single submitter not provided

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