ClinVar Miner

Submissions for variant NM_145020.5(CFAP53):c.615G>C (p.Trp205Cys)

gnomAD frequency: 0.00691  dbSNP: rs113161381
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243043 SCV000316066 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650507 SCV000772353 benign Heterotaxy, visceral, 6, autosomal 2023-10-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709472 SCV005250799 benign not provided criteria provided, single submitter not provided

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