ClinVar Miner

Submissions for variant NM_018124.4(RFWD3):c.2205G>A (p.Ser735=)

gnomAD frequency: 0.00001  dbSNP: rs190386378
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001543687 SCV001762380 likely benign Fanconi anemia, complementation group W 2021-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120623 SCV003790427 likely benign not provided 2023-06-14 criteria provided, single submitter clinical testing

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